Canonical Allele Identifier: CA373834993
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220807G>T , CM000671.2:g.91220807G>T GRCh38
NC_000009.11:g.93983089G>T , CM000671.1:g.93983089G>T GRCh37
NC_000009.10:g.93022910G>T NCBI36
NG_008017.1:g.146118C>A , LRG_449:g.146118C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.841C>A MANE Select ENSP00000364883.5:p.Gln281Lys
ENST00000303617.5:c.754C>A ENSP00000307334.5:p.Gln252Lys
ENST00000375731.8:c.841C>A ENSP00000364883.4:p.Gln281Lys
ENST00000473695.1:n.113C>A
NM_001306190.1:c.754C>A NP_001293119.1:p.Gln252Lys
NM_001698.2:c.841C>A , LRG_449t1:c.841C>A NP_001689.1:p.Gln281Lys
XM_005252066.2:c.871C>A XP_005252123.1:p.Gln291Lys
XM_005252067.3:c.871C>A XP_005252124.1:p.Gln291Lys
XM_005252069.3:c.871C>A XP_005252126.1:p.Gln291Lys
XM_005252073.2:c.379C>A XP_005252130.1:p.Gln127Lys
XM_006717150.2:c.784C>A XP_006717213.1:p.Gln262Lys
XM_011518801.1:c.517C>A XP_011517103.1:p.Gln173Lys
XM_011518802.1:c.514C>A XP_011517104.1:p.Gln172Lys
NM_001351431.1:c.514C>A NP_001338360.1:p.Gln172Lys
NM_001351432.1:c.514C>A NP_001338361.1:p.Gln172Lys
NM_001351433.1:c.514C>A NP_001338362.1:p.Gln172Lys
XM_005252066.3:c.871C>A XP_005252123.1:p.Gln291Lys
XM_005252067.4:c.871C>A XP_005252124.1:p.Gln291Lys
XM_005252069.4:c.871C>A XP_005252126.1:p.Gln291Lys
XM_006717150.3:c.784C>A XP_006717213.1:p.Gln262Lys
XM_017014849.1:c.841C>A XP_016870338.1:p.Gln281Lys
XR_001746328.2:n.1066C>A
XR_001746329.2:n.1018C>A
NM_001698.3:c.841C>A MANE Select NP_001689.1:p.Gln281Lys
NM_001306190.2:c.754C>A NP_001293119.1:p.Gln252Lys
NM_001351431.2:c.514C>A NP_001338360.1:p.Gln172Lys
NM_001351432.2:c.514C>A NP_001338361.1:p.Gln172Lys
NM_001351433.2:c.514C>A NP_001338362.1:p.Gln172Lys