Canonical Allele Identifier: CA373835037
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220828G>C , CM000671.2:g.91220828G>C GRCh38
NC_000009.11:g.93983110G>C , CM000671.1:g.93983110G>C GRCh37
NC_000009.10:g.93022931G>C NCBI36
NG_008017.1:g.146097C>G , LRG_449:g.146097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.820C>G MANE Select ENSP00000364883.5:p.Leu274Val
ENST00000303617.5:c.733C>G ENSP00000307334.5:p.Leu245Val
ENST00000375731.8:c.820C>G ENSP00000364883.4:p.Leu274Val
ENST00000473695.1:n.92C>G
NM_001306190.1:c.733C>G NP_001293119.1:p.Leu245Val
NM_001698.2:c.820C>G , LRG_449t1:c.820C>G NP_001689.1:p.Leu274Val
XM_005252066.2:c.850C>G XP_005252123.1:p.Leu284Val
XM_005252067.3:c.850C>G XP_005252124.1:p.Leu284Val
XM_005252069.3:c.850C>G XP_005252126.1:p.Leu284Val
XM_005252073.2:c.358C>G XP_005252130.1:p.Leu120Val
XM_006717150.2:c.763C>G XP_006717213.1:p.Leu255Val
XM_011518801.1:c.496C>G XP_011517103.1:p.Leu166Val
XM_011518802.1:c.493C>G XP_011517104.1:p.Leu165Val
NM_001351431.1:c.493C>G NP_001338360.1:p.Leu165Val
NM_001351432.1:c.493C>G NP_001338361.1:p.Leu165Val
NM_001351433.1:c.493C>G NP_001338362.1:p.Leu165Val
XM_005252066.3:c.850C>G XP_005252123.1:p.Leu284Val
XM_005252067.4:c.850C>G XP_005252124.1:p.Leu284Val
XM_005252069.4:c.850C>G XP_005252126.1:p.Leu284Val
XM_006717150.3:c.763C>G XP_006717213.1:p.Leu255Val
XM_017014849.1:c.820C>G XP_016870338.1:p.Leu274Val
XR_001746328.2:n.1045C>G
XR_001746329.2:n.997C>G
NM_001698.3:c.820C>G MANE Select NP_001689.1:p.Leu274Val
NM_001306190.2:c.733C>G NP_001293119.1:p.Leu245Val
NM_001351431.2:c.493C>G NP_001338360.1:p.Leu165Val
NM_001351432.2:c.493C>G NP_001338361.1:p.Leu165Val
NM_001351433.2:c.493C>G NP_001338362.1:p.Leu165Val