Canonical Allele Identifier: CA324469
Gene: AUH HGNC NCBI

Linked Data

ClinVar Variation Id: 214145
dbSNP Id: rs148157596
gnomAD v2: 9-93983254-G-A
gnomAD v3: 9-91220972-G-A
gnomAD v4: 9-91220972-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220972G>A , CM000671.2:g.91220972G>A GRCh38
NC_000009.11:g.93983254G>A , CM000671.1:g.93983254G>A GRCh37
NC_000009.10:g.93023075G>A NCBI36
NG_008017.1:g.145953C>T , LRG_449:g.145953C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.676C>T MANE Select ENSP00000364883.5:p.Arg226Cys
ENST00000303617.5:c.589C>T ENSP00000307334.5:p.Arg197Cys
ENST00000375731.8:c.676C>T ENSP00000364883.4:p.Arg226Cys
NM_001306190.1:c.589C>T NP_001293119.1:p.Arg197Cys
NM_001698.2:c.676C>T , LRG_449t1:c.676C>T NP_001689.1:p.Arg226Cys
XM_005252066.2:c.706C>T XP_005252123.1:p.Arg236Cys
XM_005252067.3:c.706C>T XP_005252124.1:p.Arg236Cys
XM_005252069.3:c.706C>T XP_005252126.1:p.Arg236Cys
XM_005252073.2:c.214C>T XP_005252130.1:p.Arg72Cys
XM_006717150.2:c.619C>T XP_006717213.1:p.Arg207Cys
XM_011518801.1:c.352C>T XP_011517103.1:p.Arg118Cys
XM_011518802.1:c.349C>T XP_011517104.1:p.Arg117Cys
NM_001351431.1:c.349C>T NP_001338360.1:p.Arg117Cys
NM_001351432.1:c.349C>T NP_001338361.1:p.Arg117Cys
NM_001351433.1:c.349C>T NP_001338362.1:p.Arg117Cys
XM_005252066.3:c.706C>T XP_005252123.1:p.Arg236Cys
XM_005252067.4:c.706C>T XP_005252124.1:p.Arg236Cys
XM_005252069.4:c.706C>T XP_005252126.1:p.Arg236Cys
XM_006717150.3:c.619C>T XP_006717213.1:p.Arg207Cys
XM_017014849.1:c.676C>T XP_016870338.1:p.Arg226Cys
XR_001746328.2:n.901C>T
XR_001746329.2:n.853C>T
NM_001698.3:c.676C>T MANE Select NP_001689.1:p.Arg226Cys
NM_001306190.2:c.589C>T NP_001293119.1:p.Arg197Cys
NM_001351431.2:c.349C>T NP_001338360.1:p.Arg117Cys
NM_001351432.2:c.349C>T NP_001338361.1:p.Arg117Cys
NM_001351433.2:c.349C>T NP_001338362.1:p.Arg117Cys