Canonical Allele Identifier: CA373835100
Gene: AUH HGNC NCBI

Linked Data

dbSNP Id: rs1335210252
gnomAD v2: 9-93983141-C-A
gnomAD v4: 9-91220859-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220859C>A , CM000671.2:g.91220859C>A GRCh38
NC_000009.11:g.93983141C>A , CM000671.1:g.93983141C>A GRCh37
NC_000009.10:g.93022962C>A NCBI36
NG_008017.1:g.146066G>T , LRG_449:g.146066G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.789G>T MANE Select ENSP00000364883.5:p.Glu263Asp
ENST00000303617.5:c.702G>T ENSP00000307334.5:p.Glu234Asp
ENST00000375731.8:c.789G>T ENSP00000364883.4:p.Glu263Asp
ENST00000473695.1:n.61G>T
NM_001306190.1:c.702G>T NP_001293119.1:p.Glu234Asp
NM_001698.2:c.789G>T , LRG_449t1:c.789G>T NP_001689.1:p.Glu263Asp
XM_005252066.2:c.819G>T XP_005252123.1:p.Glu273Asp
XM_005252067.3:c.819G>T XP_005252124.1:p.Glu273Asp
XM_005252069.3:c.819G>T XP_005252126.1:p.Glu273Asp
XM_005252073.2:c.327G>T XP_005252130.1:p.Glu109Asp
XM_006717150.2:c.732G>T XP_006717213.1:p.Glu244Asp
XM_011518801.1:c.465G>T XP_011517103.1:p.Glu155Asp
XM_011518802.1:c.462G>T XP_011517104.1:p.Glu154Asp
NM_001351431.1:c.462G>T NP_001338360.1:p.Glu154Asp
NM_001351432.1:c.462G>T NP_001338361.1:p.Glu154Asp
NM_001351433.1:c.462G>T NP_001338362.1:p.Glu154Asp
XM_005252066.3:c.819G>T XP_005252123.1:p.Glu273Asp
XM_005252067.4:c.819G>T XP_005252124.1:p.Glu273Asp
XM_005252069.4:c.819G>T XP_005252126.1:p.Glu273Asp
XM_006717150.3:c.732G>T XP_006717213.1:p.Glu244Asp
XM_017014849.1:c.789G>T XP_016870338.1:p.Glu263Asp
XR_001746328.2:n.1014G>T
XR_001746329.2:n.966G>T
NM_001698.3:c.789G>T MANE Select NP_001689.1:p.Glu263Asp
NM_001306190.2:c.702G>T NP_001293119.1:p.Glu234Asp
NM_001351431.2:c.462G>T NP_001338360.1:p.Glu154Asp
NM_001351432.2:c.462G>T NP_001338361.1:p.Glu154Asp
NM_001351433.2:c.462G>T NP_001338362.1:p.Glu154Asp