Canonical Allele Identifier: CA373835008
Gene: AUH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91220814A>T , CM000671.2:g.91220814A>T GRCh38
NC_000009.11:g.93983096A>T , CM000671.1:g.93983096A>T GRCh37
NC_000009.10:g.93022917A>T NCBI36
NG_008017.1:g.146111T>A , LRG_449:g.146111T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375731.9:c.834T>A MANE Select ENSP00000364883.5:p.Phe278Leu
ENST00000303617.5:c.747T>A ENSP00000307334.5:p.Phe249Leu
ENST00000375731.8:c.834T>A ENSP00000364883.4:p.Phe278Leu
ENST00000473695.1:n.106T>A
NM_001306190.1:c.747T>A NP_001293119.1:p.Phe249Leu
NM_001698.2:c.834T>A , LRG_449t1:c.834T>A NP_001689.1:p.Phe278Leu
XM_005252066.2:c.864T>A XP_005252123.1:p.Phe288Leu
XM_005252067.3:c.864T>A XP_005252124.1:p.Phe288Leu
XM_005252069.3:c.864T>A XP_005252126.1:p.Phe288Leu
XM_005252073.2:c.372T>A XP_005252130.1:p.Phe124Leu
XM_006717150.2:c.777T>A XP_006717213.1:p.Phe259Leu
XM_011518801.1:c.510T>A XP_011517103.1:p.Phe170Leu
XM_011518802.1:c.507T>A XP_011517104.1:p.Phe169Leu
NM_001351431.1:c.507T>A NP_001338360.1:p.Phe169Leu
NM_001351432.1:c.507T>A NP_001338361.1:p.Phe169Leu
NM_001351433.1:c.507T>A NP_001338362.1:p.Phe169Leu
XM_005252066.3:c.864T>A XP_005252123.1:p.Phe288Leu
XM_005252067.4:c.864T>A XP_005252124.1:p.Phe288Leu
XM_005252069.4:c.864T>A XP_005252126.1:p.Phe288Leu
XM_006717150.3:c.777T>A XP_006717213.1:p.Phe259Leu
XM_017014849.1:c.834T>A XP_016870338.1:p.Phe278Leu
XR_001746328.2:n.1059T>A
XR_001746329.2:n.1011T>A
NM_001698.3:c.834T>A MANE Select NP_001689.1:p.Phe278Leu
NM_001306190.2:c.747T>A NP_001293119.1:p.Phe249Leu
NM_001351431.2:c.507T>A NP_001338360.1:p.Phe169Leu
NM_001351432.2:c.507T>A NP_001338361.1:p.Phe169Leu
NM_001351433.2:c.507T>A NP_001338362.1:p.Phe169Leu