Canonical Allele Identifier: CA373835233
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220918C>A , CM000671.2:g.91220918C>A GRCh38
NC_000009.11:g.93983200C>A , CM000671.1:g.93983200C>A GRCh37
NC_000009.10:g.93023021C>A NCBI36
NG_008017.1:g.146007G>T , LRG_449:g.146007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.730G>T MANE Select ENSP00000364883.5:p.Asp244Tyr
ENST00000303617.5:c.643G>T ENSP00000307334.5:p.Asp215Tyr
ENST00000375731.8:c.730G>T ENSP00000364883.4:p.Asp244Tyr
ENST00000473695.1:n.2G>T
NM_001306190.1:c.643G>T NP_001293119.1:p.Asp215Tyr
NM_001698.2:c.730G>T , LRG_449t1:c.730G>T NP_001689.1:p.Asp244Tyr
XM_005252066.2:c.760G>T XP_005252123.1:p.Asp254Tyr
XM_005252067.3:c.760G>T XP_005252124.1:p.Asp254Tyr
XM_005252069.3:c.760G>T XP_005252126.1:p.Asp254Tyr
XM_005252073.2:c.268G>T XP_005252130.1:p.Asp90Tyr
XM_006717150.2:c.673G>T XP_006717213.1:p.Asp225Tyr
XM_011518801.1:c.406G>T XP_011517103.1:p.Asp136Tyr
XM_011518802.1:c.403G>T XP_011517104.1:p.Asp135Tyr
NM_001351431.1:c.403G>T NP_001338360.1:p.Asp135Tyr
NM_001351432.1:c.403G>T NP_001338361.1:p.Asp135Tyr
NM_001351433.1:c.403G>T NP_001338362.1:p.Asp135Tyr
XM_005252066.3:c.760G>T XP_005252123.1:p.Asp254Tyr
XM_005252067.4:c.760G>T XP_005252124.1:p.Asp254Tyr
XM_005252069.4:c.760G>T XP_005252126.1:p.Asp254Tyr
XM_006717150.3:c.673G>T XP_006717213.1:p.Asp225Tyr
XM_017014849.1:c.730G>T XP_016870338.1:p.Asp244Tyr
XR_001746328.2:n.955G>T
XR_001746329.2:n.907G>T
NM_001698.3:c.730G>T MANE Select NP_001689.1:p.Asp244Tyr
NM_001306190.2:c.643G>T NP_001293119.1:p.Asp215Tyr
NM_001351431.2:c.403G>T NP_001338360.1:p.Asp135Tyr
NM_001351432.2:c.403G>T NP_001338361.1:p.Asp135Tyr
NM_001351433.2:c.403G>T NP_001338362.1:p.Asp135Tyr