Canonical Allele Identifier: CA373835340
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220972G>T , CM000671.2:g.91220972G>T GRCh38
NC_000009.11:g.93983254G>T , CM000671.1:g.93983254G>T GRCh37
NC_000009.10:g.93023075G>T NCBI36
NG_008017.1:g.145953C>A , LRG_449:g.145953C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.676C>A MANE Select ENSP00000364883.5:p.Arg226Ser
ENST00000303617.5:c.589C>A ENSP00000307334.5:p.Arg197Ser
ENST00000375731.8:c.676C>A ENSP00000364883.4:p.Arg226Ser
NM_001306190.1:c.589C>A NP_001293119.1:p.Arg197Ser
NM_001698.2:c.676C>A , LRG_449t1:c.676C>A NP_001689.1:p.Arg226Ser
XM_005252066.2:c.706C>A XP_005252123.1:p.Arg236Ser
XM_005252067.3:c.706C>A XP_005252124.1:p.Arg236Ser
XM_005252069.3:c.706C>A XP_005252126.1:p.Arg236Ser
XM_005252073.2:c.214C>A XP_005252130.1:p.Arg72Ser
XM_006717150.2:c.619C>A XP_006717213.1:p.Arg207Ser
XM_011518801.1:c.352C>A XP_011517103.1:p.Arg118Ser
XM_011518802.1:c.349C>A XP_011517104.1:p.Arg117Ser
NM_001351431.1:c.349C>A NP_001338360.1:p.Arg117Ser
NM_001351432.1:c.349C>A NP_001338361.1:p.Arg117Ser
NM_001351433.1:c.349C>A NP_001338362.1:p.Arg117Ser
XM_005252066.3:c.706C>A XP_005252123.1:p.Arg236Ser
XM_005252067.4:c.706C>A XP_005252124.1:p.Arg236Ser
XM_005252069.4:c.706C>A XP_005252126.1:p.Arg236Ser
XM_006717150.3:c.619C>A XP_006717213.1:p.Arg207Ser
XM_017014849.1:c.676C>A XP_016870338.1:p.Arg226Ser
XR_001746328.2:n.901C>A
XR_001746329.2:n.853C>A
NM_001698.3:c.676C>A MANE Select NP_001689.1:p.Arg226Ser
NM_001306190.2:c.589C>A NP_001293119.1:p.Arg197Ser
NM_001351431.2:c.349C>A NP_001338360.1:p.Arg117Ser
NM_001351432.2:c.349C>A NP_001338361.1:p.Arg117Ser
NM_001351433.2:c.349C>A NP_001338362.1:p.Arg117Ser