Canonical Allele Identifier: CA466226186
Gene: AUH HGNC NCBI

Linked Data

dbSNP Id: rs777963106
gnomAD v2: 9-93983270-C-T
gnomAD v3: 9-91220988-C-T
gnomAD v4: 9-91220988-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220988C>T , CM000671.2:g.91220988C>T GRCh38
NC_000009.11:g.93983270C>T , CM000671.1:g.93983270C>T GRCh37
NC_000009.10:g.93023091C>T NCBI36
NG_008017.1:g.145937G>A , LRG_449:g.145937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.660G>A MANE Select ENSP00000364883.5:p.Gly220=
ENST00000303617.5:c.573G>A ENSP00000307334.5:p.Gly191=
ENST00000375731.8:c.660G>A ENSP00000364883.4:p.Gly220=
NM_001306190.1:c.573G>A NP_001293119.1:p.Gly191=
NM_001698.2:c.660G>A , LRG_449t1:c.660G>A NP_001689.1:p.Gly220=
XM_005252066.2:c.690G>A XP_005252123.1:p.Gly230=
XM_005252067.3:c.690G>A XP_005252124.1:p.Gly230=
XM_005252069.3:c.690G>A XP_005252126.1:p.Gly230=
XM_005252073.2:c.198G>A XP_005252130.1:p.Gly66=
XM_006717150.2:c.603G>A XP_006717213.1:p.Gly201=
XM_011518801.1:c.336G>A XP_011517103.1:p.Gly112=
XM_011518802.1:c.333G>A XP_011517104.1:p.Gly111=
NM_001351431.1:c.333G>A NP_001338360.1:p.Gly111=
NM_001351432.1:c.333G>A NP_001338361.1:p.Gly111=
NM_001351433.1:c.333G>A NP_001338362.1:p.Gly111=
XM_005252066.3:c.690G>A XP_005252123.1:p.Gly230=
XM_005252067.4:c.690G>A XP_005252124.1:p.Gly230=
XM_005252069.4:c.690G>A XP_005252126.1:p.Gly230=
XM_006717150.3:c.603G>A XP_006717213.1:p.Gly201=
XM_017014849.1:c.660G>A XP_016870338.1:p.Gly220=
XR_001746328.2:n.885G>A
XR_001746329.2:n.837G>A
NM_001698.3:c.660G>A MANE Select NP_001689.1:p.Gly220=
NM_001306190.2:c.573G>A NP_001293119.1:p.Gly191=
NM_001351431.2:c.333G>A NP_001338360.1:p.Gly111=
NM_001351432.2:c.333G>A NP_001338361.1:p.Gly111=
NM_001351433.2:c.333G>A NP_001338362.1:p.Gly111=