Canonical Allele Identifier: CA373836645
Gene: AUH HGNC NCBI

Linked Data

gnomAD v4: 9-91361798-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91361798C>A , CM000671.2:g.91361798C>A GRCh38
NC_000009.11:g.94124080C>A , CM000671.1:g.94124080C>A GRCh37
NC_000009.10:g.93163901C>A NCBI36
NG_008017.1:g.5127G>T , LRG_449:g.5127G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.92G>T MANE Select ENSP00000364883.5:p.Cys31Phe
ENST00000303617.5:c.92G>T ENSP00000307334.5:p.Cys31Phe
ENST00000375731.8:c.92G>T ENSP00000364883.4:p.Cys31Phe
ENST00000478465.5:n.90G>T
NM_001306190.1:c.92G>T NP_001293119.1:p.Cys31Phe
NM_001698.2:c.92G>T , LRG_449t1:c.92G>T NP_001689.1:p.Cys31Phe
XM_005252066.2:c.92G>T XP_005252123.1:p.Cys31Phe
XM_005252067.3:c.92G>T XP_005252124.1:p.Cys31Phe
XM_005252069.3:c.92G>T XP_005252126.1:p.Cys31Phe
XM_005252072.1:c.92G>T XP_005252129.1:p.Cys31Phe
XM_006717150.2:c.92G>T XP_006717213.1:p.Cys31Phe
XM_011518800.1:c.92G>T XP_011517102.1:p.Cys31Phe
XM_011518803.1:c.92G>T XP_011517105.1:p.Cys31Phe
XM_011518804.1:c.92G>T XP_011517106.1:p.Cys31Phe
XR_929814.1:n.142G>T
NM_001351431.1:c.-306G>T NP_001338360.1:n.-306G>T
NM_001351432.1:c.-398G>T NP_001338361.1:n.-398G>T
NM_001351433.1:c.-306G>T NP_001338362.1:n.-306G>T
XM_005252066.3:c.92G>T XP_005252123.1:p.Cys31Phe
XM_005252067.4:c.92G>T XP_005252124.1:p.Cys31Phe
XM_005252069.4:c.92G>T XP_005252126.1:p.Cys31Phe
XM_005252072.2:c.92G>T XP_005252129.1:p.Cys31Phe
XM_006717150.3:c.92G>T XP_006717213.1:p.Cys31Phe
XM_011518800.3:c.92G>T XP_011517102.1:p.Cys31Phe
XM_011518803.2:c.92G>T XP_011517105.1:p.Cys31Phe
XM_017014849.1:c.92G>T XP_016870338.1:p.Cys31Phe
XR_001746328.2:n.145G>T
XR_001746329.2:n.127G>T
NM_001698.3:c.92G>T MANE Select NP_001689.1:p.Cys31Phe
NM_001306190.2:c.92G>T NP_001293119.1:p.Cys31Phe
NM_001351431.2:c.-306G>T NP_001338360.1:n.-306G>T
NM_001351432.2:c.-398G>T NP_001338361.1:n.-398G>T
NM_001351433.2:c.-306G>T NP_001338362.1:n.-306G>T