Canonical Allele Identifier: CA383457695

Gene: SNX19

Linked Data

• gnomAD v4: 11-130880677-C-G
• MyVariant Identifiers: chr11:g.130750572C>G (hg19) ; chr11:g.130880677C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130880677C>G , CM000673.2:g.130880677C>G	GRCh38
NC_000011.9:g.130750572C>G , CM000673.1:g.130750572C>G	GRCh37
NC_000011.8:g.130255782C>G	NCBI36
NG_053190.1:g.40812G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265909.9:c.2703G>C MANE Select	ENSP00000265909.4:p.Glu901Asp
ENST00000265909.8:c.2703G>C	ENSP00000265909.4:p.Glu901Asp
ENST00000426933.6:c.207G>C	ENSP00000413345.2:p.Glu69Asp
ENST00000526579.5:n.178-966G>C
ENST00000527116.5:n.465G>C
ENST00000528555.5:c.843G>C	ENSP00000435122.1:p.Glu281Asp
ENST00000530330.1:n.439G>C
ENST00000530356.5:c.843G>C	ENSP00000432307.1:p.Glu281Asp
ENST00000533318.5:n.1063G>C
ENST00000534726.5:c.423G>C	ENSP00000433699.1:p.Glu141Asp
NM_001301089.1:c.843G>C	NP_001288018.1:p.Glu281Asp
NM_014758.2:c.2703G>C	NP_055573.2:p.Glu901Asp
XM_005271546.3:c.2574-966G>C	XP_005271603.1:n.2574-966G>C
XM_011542819.1:c.2949G>C	XP_011541121.1:p.Glu983Asp
XM_011542820.1:c.2937G>C	XP_011541122.1:p.Glu979Asp
XM_011542821.1:c.2829G>C	XP_011541123.1:p.Glu943Asp
XM_011542824.1:c.2067G>C	XP_011541126.1:p.Glu689Asp
XM_011542825.1:c.1224G>C	XP_011541127.1:p.Glu408Asp
XM_011542826.1:c.1089G>C	XP_011541128.1:p.Glu363Asp
XM_011542827.1:c.969G>C	XP_011541129.1:p.Glu323Asp
NM_001347918.1:c.2583G>C	NP_001334847.1:p.Glu861Asp
NM_001347919.1:c.2574-966G>C	NP_001334848.1:n.2574-966G>C
NM_001347922.1:c.1032G>C	NP_001334851.1:p.Glu344Asp
NM_001347923.1:c.978G>C	NP_001334852.1:p.Glu326Asp
NM_001347924.1:c.723G>C	NP_001334853.1:p.Glu241Asp
NM_001347925.1:c.669G>C	NP_001334854.1:p.Glu223Asp
NM_001347926.1:c.714-966G>C	NP_001334855.1:n.714-966G>C
NM_001347927.1:c.423G>C	NP_001334856.1:p.Glu141Asp
NR_144939.1:n.3336G>C
XM_011542820.2:c.2937G>C	XP_011541122.1:p.Glu979Asp
XM_011542821.3:c.2829G>C	XP_011541123.1:p.Glu943Asp
XM_011542824.2:c.2067G>C	XP_011541126.1:p.Glu689Asp
XM_011542825.2:c.1224G>C	XP_011541127.1:p.Glu408Asp
XM_011542826.2:c.1089G>C	XP_011541128.1:p.Glu363Asp
XM_024448521.1:c.2949G>C	XP_024304289.1:p.Glu983Asp
XR_001747870.1:n.3774G>C
XR_001747872.1:n.3120G>C
XR_001747873.1:n.3434G>C
NM_001301089.2:c.843G>C	NP_001288018.1:p.Glu281Asp
NM_001347918.2:c.2583G>C	NP_001334847.2:p.Glu861Asp
NM_001347919.2:c.2574-966G>C	NP_001334848.2:n.2574-966G>C
NM_001347920.2:c.*21099G>C	NP_001334849.2:n.*21099G>C
NM_001347922.2:c.1032G>C	NP_001334851.2:p.Glu344Asp
NM_001347923.2:c.978G>C	NP_001334852.2:p.Glu326Asp
NM_001347924.2:c.723G>C	NP_001334853.1:p.Glu241Asp
NM_001347925.2:c.669G>C	NP_001334854.1:p.Glu223Asp
NM_001347926.2:c.714-966G>C	NP_001334855.1:n.714-966G>C
NM_001347927.2:c.423G>C	NP_001334856.1:p.Glu141Asp
NM_014758.3:c.2703G>C MANE Select	NP_055573.3:p.Glu901Asp
NR_144939.2:n.3328G>C