Canonical Allele Identifier: CA373835373
Gene: AUH HGNC NCBI

Linked Data

gnomAD v4: 9-91220989-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220989C>G , CM000671.2:g.91220989C>G GRCh38
NC_000009.11:g.93983271C>G , CM000671.1:g.93983271C>G GRCh37
NC_000009.10:g.93023092C>G NCBI36
NG_008017.1:g.145936G>C , LRG_449:g.145936G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.659G>C MANE Select ENSP00000364883.5:p.Gly220Ala
ENST00000303617.5:c.572G>C ENSP00000307334.5:p.Gly191Ala
ENST00000375731.8:c.659G>C ENSP00000364883.4:p.Gly220Ala
NM_001306190.1:c.572G>C NP_001293119.1:p.Gly191Ala
NM_001698.2:c.659G>C , LRG_449t1:c.659G>C NP_001689.1:p.Gly220Ala
XM_005252066.2:c.689G>C XP_005252123.1:p.Gly230Ala
XM_005252067.3:c.689G>C XP_005252124.1:p.Gly230Ala
XM_005252069.3:c.689G>C XP_005252126.1:p.Gly230Ala
XM_005252073.2:c.197G>C XP_005252130.1:p.Gly66Ala
XM_006717150.2:c.602G>C XP_006717213.1:p.Gly201Ala
XM_011518801.1:c.335G>C XP_011517103.1:p.Gly112Ala
XM_011518802.1:c.332G>C XP_011517104.1:p.Gly111Ala
NM_001351431.1:c.332G>C NP_001338360.1:p.Gly111Ala
NM_001351432.1:c.332G>C NP_001338361.1:p.Gly111Ala
NM_001351433.1:c.332G>C NP_001338362.1:p.Gly111Ala
XM_005252066.3:c.689G>C XP_005252123.1:p.Gly230Ala
XM_005252067.4:c.689G>C XP_005252124.1:p.Gly230Ala
XM_005252069.4:c.689G>C XP_005252126.1:p.Gly230Ala
XM_006717150.3:c.602G>C XP_006717213.1:p.Gly201Ala
XM_017014849.1:c.659G>C XP_016870338.1:p.Gly220Ala
XR_001746328.2:n.884G>C
XR_001746329.2:n.836G>C
NM_001698.3:c.659G>C MANE Select NP_001689.1:p.Gly220Ala
NM_001306190.2:c.572G>C NP_001293119.1:p.Gly191Ala
NM_001351431.2:c.332G>C NP_001338360.1:p.Gly111Ala
NM_001351432.2:c.332G>C NP_001338361.1:p.Gly111Ala
NM_001351433.2:c.332G>C NP_001338362.1:p.Gly111Ala