Canonical Allele Identifier: CA380315538

Gene: SLC39A13

Linked Data

• MyVariant Identifiers: chr11:g.47436882G>C (hg19) ; chr11:g.47415331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47415331G>C , CM000673.2:g.47415331G>C	GRCh38
NC_000011.9:g.47436882G>C , CM000673.1:g.47436882G>C	GRCh37
NC_000011.8:g.47393458G>C	NCBI36
NG_017073.1:g.11837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362021.9:c.1084G>C MANE Select	ENSP00000354689.4:p.Val362Leu
ENST00000354884.8:c.1063G>C	ENSP00000346956.4:p.Val355Leu
ENST00000362021.8:c.1084G>C	ENSP00000354689.4:p.Val362Leu
ENST00000524886.1:n.342G>C
ENST00000524928.1:c.*1414G>C	ENSP00000437186.1:n.*1414G>C
ENST00000527829.1:n.444G>C
ENST00000533076.5:c.*81G>C	ENSP00000434290.1:n.*81G>C
NM_001128225.2:c.1084G>C	NP_001121697.1:p.Val362Leu
NM_152264.4:c.1063G>C	NP_689477.2:p.Val355Leu
XM_006718381.2:c.1108G>C	XP_006718444.1:p.Val370Leu
XM_006718383.2:c.1000G>C	XP_006718446.1:p.Val334Leu
XM_006718384.2:c.*81G>C	XP_006718447.1:n.*81G>C
XM_006718385.2:c.*81G>C	XP_006718448.1:n.*81G>C
XM_011520466.1:c.1129G>C	XP_011518768.1:p.Val377Leu
XM_011520467.1:c.1084G>C	XP_011518769.1:p.Val362Leu
XM_011520468.1:c.1084G>C	XP_011518770.1:p.Val362Leu
XM_011520469.1:c.1021G>C	XP_011518771.1:p.Val341Leu
XM_011520470.1:c.976G>C	XP_011518772.1:p.Val326Leu
XR_242832.1:n.1469G>C
XR_428862.2:n.1144G>C
XR_428863.2:n.1140G>C
XR_930928.1:n.1165G>C
NM_001330245.1:c.*81G>C	NP_001317174.1:n.*81G>C
NR_134854.1:n.1325G>C
XM_006718381.3:c.1108G>C	XP_006718444.1:p.Val370Leu
XM_006718383.3:c.1000G>C	XP_006718446.1:p.Val334Leu
XM_011520468.3:c.1084G>C	XP_011518770.1:p.Val362Leu
XM_011520470.2:c.976G>C	XP_011518772.1:p.Val326Leu
XM_017018540.2:c.1063G>C	XP_016874029.1:p.Val355Leu
XM_017018541.2:c.955G>C	XP_016874030.1:p.Val319Leu
XM_024448762.1:c.1213G>C	XP_024304530.1:p.Val405Leu
XR_001748027.1:n.1284G>C
XR_001748028.1:n.1266G>C
XR_428862.3:n.1144G>C
XR_428863.3:n.1140G>C
XR_930928.2:n.1165G>C
NM_001128225.3:c.1084G>C MANE Select	NP_001121697.2:p.Val362Leu
NM_001330245.2:c.*81G>C	NP_001317174.2:n.*81G>C
NM_152264.5:c.1063G>C	NP_689477.3:p.Val355Leu