Canonical Allele Identifier: CA390755753

Gene: NRXN3

Linked Data

• gnomAD v4: 14-78714762-T-C
• MyVariant Identifiers: chr14:g.79181105T>C (hg19) ; chr14:g.78714762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.78714762T>C , CM000676.2:g.78714762T>C	GRCh38
NC_000014.8:g.79181105T>C , CM000676.1:g.79181105T>C	GRCh37
NC_000014.7:g.78250858T>C	NCBI36
NG_052991.1:g.549390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335750.7:c.1667T>C MANE Select	ENSP00000338349.7:p.Ile556Thr
ENST00000634499.2:c.1679T>C	ENSP00000488920.2:p.Ile560Thr
ENST00000635466.2:c.910T>C
ENST00000335750.6:c.950T>C	ENSP00000338349.6:p.Ile317Thr
ENST00000554719.5:c.548T>C	ENSP00000451648.1:p.Ile183Thr
ENST00000554738.5:c.1661T>C	ENSP00000450683.1:p.Ile554Thr
ENST00000556496.2:n.1011T>C
ENST00000634266.1:n.910T>C
ENST00000634499.1:c.1661T>C	ENSP00000488920.1:p.Ile554Thr
ENST00000635466.1:c.1667T>C	ENSP00000489551.1:p.Ile556Thr
NM_004796.5:c.548T>C	NP_004787.2:p.Ile183Thr
NR_073547.1:n.2666T>C
XM_005268218.2:c.1703T>C	XP_005268275.1:p.Ile568Thr
XM_006720322.2:c.1691T>C	XP_006720385.1:p.Ile564Thr
XM_006720323.2:c.1667T>C	XP_006720386.1:p.Ile556Thr
XM_011537363.1:c.1703T>C	XP_011535665.1:p.Ile568Thr
XM_011537364.1:c.1703T>C	XP_011535666.1:p.Ile568Thr
XM_011537365.1:c.1703T>C	XP_011535667.1:p.Ile568Thr
XM_011537366.1:c.1679T>C	XP_011535668.1:p.Ile560Thr
XM_011537367.1:c.1703T>C	XP_011535669.1:p.Ile568Thr
XM_011537368.1:c.1703T>C	XP_011535670.1:p.Ile568Thr
XM_011537369.1:c.1703T>C	XP_011535671.1:p.Ile568Thr
XM_011537370.1:c.1679T>C	XP_011535672.1:p.Ile560Thr
XM_011537371.1:c.1703T>C	XP_011535673.1:p.Ile568Thr
XM_011537372.1:c.1703T>C	XP_011535674.1:p.Ile568Thr
XM_011537373.1:c.1703T>C	XP_011535675.1:p.Ile568Thr
XM_011537374.1:c.1703T>C	XP_011535676.1:p.Ile568Thr
XM_011537375.1:c.1703T>C	XP_011535677.1:p.Ile568Thr
XM_011537376.1:c.1703T>C	XP_011535678.1:p.Ile568Thr
XM_011537377.1:c.611T>C	XP_011535679.1:p.Ile204Thr
XR_943561.1:n.2708T>C
XR_943562.1:n.2708T>C
XR_943563.1:n.2708T>C
NM_001330195.1:c.1667T>C	NP_001317124.1:p.Ile556Thr
NM_001366425.1:c.1667T>C	NP_001353354.1:p.Ile556Thr
NM_001366426.1:c.1679T>C	NP_001353355.1:p.Ile560Thr
NR_158973.1:n.2684T>C
NR_158974.1:n.2672T>C
NR_158975.1:n.2684T>C
XM_005268218.3:c.1703T>C	XP_005268275.1:p.Ile568Thr
XM_011537364.2:c.1703T>C	XP_011535666.1:p.Ile568Thr
XM_011537365.2:c.1703T>C	XP_011535667.1:p.Ile568Thr
XM_017021790.1:c.1703T>C	XP_016877279.1:p.Ile568Thr
XM_017021791.1:c.1703T>C	XP_016877280.1:p.Ile568Thr
XM_017021792.1:c.1691T>C	XP_016877281.1:p.Ile564Thr
XM_017021793.1:c.1703T>C	XP_016877282.1:p.Ile568Thr
XM_017021794.1:c.1667T>C	XP_016877283.1:p.Ile556Thr
XM_017021796.2:c.1679T>C	XP_016877285.1:p.Ile560Thr
XM_017021797.1:c.1643T>C	XP_016877286.1:p.Ile548Thr
XM_017021798.1:c.1667T>C	XP_016877287.1:p.Ile556Thr
XM_017021799.2:c.1703T>C	XP_016877288.1:p.Ile568Thr
XM_017021800.1:c.1703T>C	XP_016877289.1:p.Ile568Thr
XM_017021801.1:c.1703T>C	XP_016877290.1:p.Ile568Thr
XM_017021804.1:c.1703T>C	XP_016877293.1:p.Ile568Thr
XM_017021805.1:c.1667T>C	XP_016877294.1:p.Ile556Thr
XM_017021807.1:c.1703T>C	XP_016877296.1:p.Ile568Thr
XM_024449750.1:c.1703T>C	XP_024305518.1:p.Ile568Thr
XM_024449751.1:c.1667T>C	XP_024305519.1:p.Ile556Thr
XM_024449752.1:c.1691T>C	XP_024305520.1:p.Ile564Thr
XM_024449753.1:c.1667T>C	XP_024305521.1:p.Ile556Thr
XR_001750599.1:n.2708T>C
XR_001750600.1:n.2708T>C
XR_001750602.1:n.2708T>C
XR_001750604.1:n.2684T>C
XR_001750605.1:n.2684T>C
XR_001750606.1:n.2708T>C
XR_001750607.1:n.2708T>C
XR_001750609.1:n.2708T>C
XR_001750610.1:n.2708T>C
XR_002957572.1:n.2708T>C
XR_943563.2:n.2708T>C
NM_001330195.2:c.1667T>C MANE Select	NP_001317124.1:p.Ile556Thr
NM_004796.6:c.548T>C	NP_004787.2:p.Ile183Thr
NR_073547.2:n.2666T>C