Canonical Allele Identifier: CA373835278
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220942G>C , CM000671.2:g.91220942G>C GRCh38
NC_000009.11:g.93983224G>C , CM000671.1:g.93983224G>C GRCh37
NC_000009.10:g.93023045G>C NCBI36
NG_008017.1:g.145983C>G , LRG_449:g.145983C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.706C>G MANE Select ENSP00000364883.5:p.Leu236Val
ENST00000303617.5:c.619C>G ENSP00000307334.5:p.Leu207Val
ENST00000375731.8:c.706C>G ENSP00000364883.4:p.Leu236Val
NM_001306190.1:c.619C>G NP_001293119.1:p.Leu207Val
NM_001698.2:c.706C>G , LRG_449t1:c.706C>G NP_001689.1:p.Leu236Val
XM_005252066.2:c.736C>G XP_005252123.1:p.Leu246Val
XM_005252067.3:c.736C>G XP_005252124.1:p.Leu246Val
XM_005252069.3:c.736C>G XP_005252126.1:p.Leu246Val
XM_005252073.2:c.244C>G XP_005252130.1:p.Leu82Val
XM_006717150.2:c.649C>G XP_006717213.1:p.Leu217Val
XM_011518801.1:c.382C>G XP_011517103.1:p.Leu128Val
XM_011518802.1:c.379C>G XP_011517104.1:p.Leu127Val
NM_001351431.1:c.379C>G NP_001338360.1:p.Leu127Val
NM_001351432.1:c.379C>G NP_001338361.1:p.Leu127Val
NM_001351433.1:c.379C>G NP_001338362.1:p.Leu127Val
XM_005252066.3:c.736C>G XP_005252123.1:p.Leu246Val
XM_005252067.4:c.736C>G XP_005252124.1:p.Leu246Val
XM_005252069.4:c.736C>G XP_005252126.1:p.Leu246Val
XM_006717150.3:c.649C>G XP_006717213.1:p.Leu217Val
XM_017014849.1:c.706C>G XP_016870338.1:p.Leu236Val
XR_001746328.2:n.931C>G
XR_001746329.2:n.883C>G
NM_001698.3:c.706C>G MANE Select NP_001689.1:p.Leu236Val
NM_001306190.2:c.619C>G NP_001293119.1:p.Leu207Val
NM_001351431.2:c.379C>G NP_001338360.1:p.Leu127Val
NM_001351432.2:c.379C>G NP_001338361.1:p.Leu127Val
NM_001351433.2:c.379C>G NP_001338362.1:p.Leu127Val