Canonical Allele Identifier: CA322021

Gene: AUH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220906C>T , CM000671.2:g.91220906C>T	GRCh38
NC_000009.11:g.93983188C>T , CM000671.1:g.93983188C>T	GRCh37
NC_000009.10:g.93023009C>T	NCBI36
NG_008017.1:g.146019G>A , LRG_449:g.146019G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001698.3:c.742G>A MANE Select	NP_001689.1:p.Ala248Thr
ENST00000375731.9:c.742G>A MANE Select	ENSP00000364883.5:p.Ala248Thr
NM_001306190.1:c.655G>A	NP_001293119.1:p.Ala219Thr
NM_001306190.2:c.655G>A	NP_001293119.1:p.Ala219Thr
NM_001351431.1:c.415G>A	NP_001338360.1:p.Ala139Thr
NM_001351431.2:c.415G>A	NP_001338360.1:p.Ala139Thr
NM_001351432.1:c.415G>A	NP_001338361.1:p.Ala139Thr
NM_001351432.2:c.415G>A	NP_001338361.1:p.Ala139Thr
NM_001351433.1:c.415G>A	NP_001338362.1:p.Ala139Thr
NM_001351433.2:c.415G>A	NP_001338362.1:p.Ala139Thr
NM_001698.2:c.742G>A , LRG_449t1:c.742G>A	NP_001689.1:p.Ala248Thr
ENST00000303617.5:c.655G>A	ENSP00000307334.5:p.Ala219Thr
ENST00000375731.8:c.742G>A	ENSP00000364883.4:p.Ala248Thr
ENST00000473695.1:n.14G>A
XM_005252066.2:c.772G>A	XP_005252123.1:p.Ala258Thr
XM_005252066.3:c.772G>A	XP_005252123.1:p.Ala258Thr
XM_005252067.3:c.772G>A	XP_005252124.1:p.Ala258Thr
XM_005252067.4:c.772G>A	XP_005252124.1:p.Ala258Thr
XM_005252069.3:c.772G>A	XP_005252126.1:p.Ala258Thr
XM_005252069.4:c.772G>A	XP_005252126.1:p.Ala258Thr
XM_005252073.2:c.280G>A	XP_005252130.1:p.Ala94Thr
XM_006717150.2:c.685G>A	XP_006717213.1:p.Ala229Thr
XM_006717150.3:c.685G>A	XP_006717213.1:p.Ala229Thr
XM_011518801.1:c.418G>A	XP_011517103.1:p.Ala140Thr
XM_011518802.1:c.415G>A	XP_011517104.1:p.Ala139Thr
XM_017014849.1:c.742G>A	XP_016870338.1:p.Ala248Thr
XR_001746328.2:n.967G>A
XR_001746329.2:n.919G>A