Canonical Allele Identifier: CA289616
Gene: AUH HGNC NCBI

Linked Data

ClinVar Variation Id: 136474
dbSNP Id: rs74484860
gnomAD v2: 9-94124095-C-T
gnomAD v3: 9-91361813-C-T
gnomAD v4: 9-91361813-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91361813C>T , CM000671.2:g.91361813C>T GRCh38
NC_000009.11:g.94124095C>T , CM000671.1:g.94124095C>T GRCh37
NC_000009.10:g.93163916C>T NCBI36
NG_008017.1:g.5112G>A , LRG_449:g.5112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.77G>A MANE Select ENSP00000364883.5:p.Cys26Tyr
ENST00000303617.5:c.77G>A ENSP00000307334.5:p.Cys26Tyr
ENST00000375731.8:c.77G>A ENSP00000364883.4:p.Cys26Tyr
ENST00000478465.5:n.75G>A
NM_001306190.1:c.77G>A NP_001293119.1:p.Cys26Tyr
NM_001698.2:c.77G>A , LRG_449t1:c.77G>A NP_001689.1:p.Cys26Tyr
XM_005252066.2:c.77G>A XP_005252123.1:p.Cys26Tyr
XM_005252067.3:c.77G>A XP_005252124.1:p.Cys26Tyr
XM_005252069.3:c.77G>A XP_005252126.1:p.Cys26Tyr
XM_005252072.1:c.77G>A XP_005252129.1:p.Cys26Tyr
XM_006717150.2:c.77G>A XP_006717213.1:p.Cys26Tyr
XM_011518800.1:c.77G>A XP_011517102.1:p.Cys26Tyr
XM_011518803.1:c.77G>A XP_011517105.1:p.Cys26Tyr
XM_011518804.1:c.77G>A XP_011517106.1:p.Cys26Tyr
XR_929814.1:n.127G>A
NM_001351431.1:c.-321G>A NP_001338360.1:n.-321G>A
NM_001351432.1:c.-413G>A NP_001338361.1:n.-413G>A
NM_001351433.1:c.-321G>A NP_001338362.1:n.-321G>A
XM_005252066.3:c.77G>A XP_005252123.1:p.Cys26Tyr
XM_005252067.4:c.77G>A XP_005252124.1:p.Cys26Tyr
XM_005252069.4:c.77G>A XP_005252126.1:p.Cys26Tyr
XM_005252072.2:c.77G>A XP_005252129.1:p.Cys26Tyr
XM_006717150.3:c.77G>A XP_006717213.1:p.Cys26Tyr
XM_011518800.3:c.77G>A XP_011517102.1:p.Cys26Tyr
XM_011518803.2:c.77G>A XP_011517105.1:p.Cys26Tyr
XM_017014849.1:c.77G>A XP_016870338.1:p.Cys26Tyr
XR_001746328.2:n.130G>A
XR_001746329.2:n.112G>A
NM_001698.3:c.77G>A MANE Select NP_001689.1:p.Cys26Tyr
NM_001306190.2:c.77G>A NP_001293119.1:p.Cys26Tyr
NM_001351431.2:c.-321G>A NP_001338360.1:n.-321G>A
NM_001351432.2:c.-413G>A NP_001338361.1:n.-413G>A
NM_001351433.2:c.-321G>A NP_001338362.1:n.-321G>A