Canonical Allele Identifier: CA373835256

Gene: AUH

Linked Data

• gnomAD v4: 9-91220932-G-A
• MyVariant Identifiers: chr9:g.93983214G>A (hg19) ; chr9:g.91220932G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.716C>T MANE Select	ENSP00000364883.5:p.Ser239Phe
ENST00000303617.5:c.629C>T	ENSP00000307334.5:p.Ser210Phe
ENST00000375731.8:c.716C>T	ENSP00000364883.4:p.Ser239Phe
NM_001306190.1:c.629C>T	NP_001293119.1:p.Ser210Phe
NM_001698.2:c.716C>T , LRG_449t1:c.716C>T	NP_001689.1:p.Ser239Phe
XM_005252066.2:c.746C>T	XP_005252123.1:p.Ser249Phe
XM_005252067.3:c.746C>T	XP_005252124.1:p.Ser249Phe
XM_005252069.3:c.746C>T	XP_005252126.1:p.Ser249Phe
XM_005252073.2:c.254C>T	XP_005252130.1:p.Ser85Phe
XM_006717150.2:c.659C>T	XP_006717213.1:p.Ser220Phe
XM_011518801.1:c.392C>T	XP_011517103.1:p.Ser131Phe
XM_011518802.1:c.389C>T	XP_011517104.1:p.Ser130Phe
NM_001351431.1:c.389C>T	NP_001338360.1:p.Ser130Phe
NM_001351432.1:c.389C>T	NP_001338361.1:p.Ser130Phe
NM_001351433.1:c.389C>T	NP_001338362.1:p.Ser130Phe
XM_005252066.3:c.746C>T	XP_005252123.1:p.Ser249Phe
XM_005252067.4:c.746C>T	XP_005252124.1:p.Ser249Phe
XM_005252069.4:c.746C>T	XP_005252126.1:p.Ser249Phe
XM_006717150.3:c.659C>T	XP_006717213.1:p.Ser220Phe
XM_017014849.1:c.716C>T	XP_016870338.1:p.Ser239Phe
XR_001746328.2:n.941C>T
XR_001746329.2:n.893C>T
NM_001698.3:c.716C>T MANE Select	NP_001689.1:p.Ser239Phe
NM_001306190.2:c.629C>T	NP_001293119.1:p.Ser210Phe
NM_001351431.2:c.389C>T	NP_001338360.1:p.Ser130Phe
NM_001351432.2:c.389C>T	NP_001338361.1:p.Ser130Phe
NM_001351433.2:c.389C>T	NP_001338362.1:p.Ser130Phe