Canonical Allele Identifier: CA373835017
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220818T>A , CM000671.2:g.91220818T>A GRCh38
NC_000009.11:g.93983100T>A , CM000671.1:g.93983100T>A GRCh37
NC_000009.10:g.93022921T>A NCBI36
NG_008017.1:g.146107A>T , LRG_449:g.146107A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.830A>T MANE Select ENSP00000364883.5:p.Glu277Val
ENST00000303617.5:c.743A>T ENSP00000307334.5:p.Glu248Val
ENST00000375731.8:c.830A>T ENSP00000364883.4:p.Glu277Val
ENST00000473695.1:n.102A>T
NM_001306190.1:c.743A>T NP_001293119.1:p.Glu248Val
NM_001698.2:c.830A>T , LRG_449t1:c.830A>T NP_001689.1:p.Glu277Val
XM_005252066.2:c.860A>T XP_005252123.1:p.Glu287Val
XM_005252067.3:c.860A>T XP_005252124.1:p.Glu287Val
XM_005252069.3:c.860A>T XP_005252126.1:p.Glu287Val
XM_005252073.2:c.368A>T XP_005252130.1:p.Glu123Val
XM_006717150.2:c.773A>T XP_006717213.1:p.Glu258Val
XM_011518801.1:c.506A>T XP_011517103.1:p.Glu169Val
XM_011518802.1:c.503A>T XP_011517104.1:p.Glu168Val
NM_001351431.1:c.503A>T NP_001338360.1:p.Glu168Val
NM_001351432.1:c.503A>T NP_001338361.1:p.Glu168Val
NM_001351433.1:c.503A>T NP_001338362.1:p.Glu168Val
XM_005252066.3:c.860A>T XP_005252123.1:p.Glu287Val
XM_005252067.4:c.860A>T XP_005252124.1:p.Glu287Val
XM_005252069.4:c.860A>T XP_005252126.1:p.Glu287Val
XM_006717150.3:c.773A>T XP_006717213.1:p.Glu258Val
XM_017014849.1:c.830A>T XP_016870338.1:p.Glu277Val
XR_001746328.2:n.1055A>T
XR_001746329.2:n.1007A>T
NM_001698.3:c.830A>T MANE Select NP_001689.1:p.Glu277Val
NM_001306190.2:c.743A>T NP_001293119.1:p.Glu248Val
NM_001351431.2:c.503A>T NP_001338360.1:p.Glu168Val
NM_001351432.2:c.503A>T NP_001338361.1:p.Glu168Val
NM_001351433.2:c.503A>T NP_001338362.1:p.Glu168Val