Canonical Allele Identifier: CA373835237
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220920A>T , CM000671.2:g.91220920A>T GRCh38
NC_000009.11:g.93983202A>T , CM000671.1:g.93983202A>T GRCh37
NC_000009.10:g.93023023A>T NCBI36
NG_008017.1:g.146005T>A , LRG_449:g.146005T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.728T>A MANE Select ENSP00000364883.5:p.Leu243His
ENST00000303617.5:c.641T>A ENSP00000307334.5:p.Leu214His
ENST00000375731.8:c.728T>A ENSP00000364883.4:p.Leu243His
NM_001306190.1:c.641T>A NP_001293119.1:p.Leu214His
NM_001698.2:c.728T>A , LRG_449t1:c.728T>A NP_001689.1:p.Leu243His
XM_005252066.2:c.758T>A XP_005252123.1:p.Leu253His
XM_005252067.3:c.758T>A XP_005252124.1:p.Leu253His
XM_005252069.3:c.758T>A XP_005252126.1:p.Leu253His
XM_005252073.2:c.266T>A XP_005252130.1:p.Leu89His
XM_006717150.2:c.671T>A XP_006717213.1:p.Leu224His
XM_011518801.1:c.404T>A XP_011517103.1:p.Leu135His
XM_011518802.1:c.401T>A XP_011517104.1:p.Leu134His
NM_001351431.1:c.401T>A NP_001338360.1:p.Leu134His
NM_001351432.1:c.401T>A NP_001338361.1:p.Leu134His
NM_001351433.1:c.401T>A NP_001338362.1:p.Leu134His
XM_005252066.3:c.758T>A XP_005252123.1:p.Leu253His
XM_005252067.4:c.758T>A XP_005252124.1:p.Leu253His
XM_005252069.4:c.758T>A XP_005252126.1:p.Leu253His
XM_006717150.3:c.671T>A XP_006717213.1:p.Leu224His
XM_017014849.1:c.728T>A XP_016870338.1:p.Leu243His
XR_001746328.2:n.953T>A
XR_001746329.2:n.905T>A
NM_001698.3:c.728T>A MANE Select NP_001689.1:p.Leu243His
NM_001306190.2:c.641T>A NP_001293119.1:p.Leu214His
NM_001351431.2:c.401T>A NP_001338360.1:p.Leu134His
NM_001351432.2:c.401T>A NP_001338361.1:p.Leu134His
NM_001351433.2:c.401T>A NP_001338362.1:p.Leu134His