Canonical Allele Identifier: CA5119751

Gene: AUH

Linked Data

• dbSNP Id: rs768440462
• ExAC: 9:93983214 G / T
• gnomAD v2: 9-93983214-G-T
• MyVariant Identifiers: chr9:g.93983214G>T (hg19) ; chr9:g.91220932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220932G>T , CM000671.2:g.91220932G>T	GRCh38
NC_000009.11:g.93983214G>T , CM000671.1:g.93983214G>T	GRCh37
NC_000009.10:g.93023035G>T	NCBI36
NG_008017.1:g.145993C>A , LRG_449:g.145993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.716C>A MANE Select	ENSP00000364883.5:p.Ser239Tyr
ENST00000303617.5:c.629C>A	ENSP00000307334.5:p.Ser210Tyr
ENST00000375731.8:c.716C>A	ENSP00000364883.4:p.Ser239Tyr
NM_001306190.1:c.629C>A	NP_001293119.1:p.Ser210Tyr
NM_001698.2:c.716C>A , LRG_449t1:c.716C>A	NP_001689.1:p.Ser239Tyr
XM_005252066.2:c.746C>A	XP_005252123.1:p.Ser249Tyr
XM_005252067.3:c.746C>A	XP_005252124.1:p.Ser249Tyr
XM_005252069.3:c.746C>A	XP_005252126.1:p.Ser249Tyr
XM_005252073.2:c.254C>A	XP_005252130.1:p.Ser85Tyr
XM_006717150.2:c.659C>A	XP_006717213.1:p.Ser220Tyr
XM_011518801.1:c.392C>A	XP_011517103.1:p.Ser131Tyr
XM_011518802.1:c.389C>A	XP_011517104.1:p.Ser130Tyr
NM_001351431.1:c.389C>A	NP_001338360.1:p.Ser130Tyr
NM_001351432.1:c.389C>A	NP_001338361.1:p.Ser130Tyr
NM_001351433.1:c.389C>A	NP_001338362.1:p.Ser130Tyr
XM_005252066.3:c.746C>A	XP_005252123.1:p.Ser249Tyr
XM_005252067.4:c.746C>A	XP_005252124.1:p.Ser249Tyr
XM_005252069.4:c.746C>A	XP_005252126.1:p.Ser249Tyr
XM_006717150.3:c.659C>A	XP_006717213.1:p.Ser220Tyr
XM_017014849.1:c.716C>A	XP_016870338.1:p.Ser239Tyr
XR_001746328.2:n.941C>A
XR_001746329.2:n.893C>A
NM_001698.3:c.716C>A MANE Select	NP_001689.1:p.Ser239Tyr
NM_001306190.2:c.629C>A	NP_001293119.1:p.Ser210Tyr
NM_001351431.2:c.389C>A	NP_001338360.1:p.Ser130Tyr
NM_001351432.2:c.389C>A	NP_001338361.1:p.Ser130Tyr
NM_001351433.2:c.389C>A	NP_001338362.1:p.Ser130Tyr