Canonical Allele Identifier: CA5119748

Gene: AUH

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220927G>A , CM000671.2:g.91220927G>A	GRCh38
NC_000009.11:g.93983209G>A , CM000671.1:g.93983209G>A	GRCh37
NC_000009.10:g.93023030G>A	NCBI36
NG_008017.1:g.145998C>T , LRG_449:g.145998C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001698.3:c.721C>T MANE Select	NP_001689.1:p.Arg241Ter
ENST00000375731.9:c.721C>T MANE Select	ENSP00000364883.5:p.Arg241Ter
NM_001306190.1:c.634C>T	NP_001293119.1:p.Arg212Ter
NM_001306190.2:c.634C>T	NP_001293119.1:p.Arg212Ter
NM_001351431.1:c.394C>T	NP_001338360.1:p.Arg132Ter
NM_001351431.2:c.394C>T	NP_001338360.1:p.Arg132Ter
NM_001351432.1:c.394C>T	NP_001338361.1:p.Arg132Ter
NM_001351432.2:c.394C>T	NP_001338361.1:p.Arg132Ter
NM_001351433.1:c.394C>T	NP_001338362.1:p.Arg132Ter
NM_001351433.2:c.394C>T	NP_001338362.1:p.Arg132Ter
NM_001698.2:c.721C>T , LRG_449t1:c.721C>T	NP_001689.1:p.Arg241Ter
ENST00000303617.5:c.634C>T	ENSP00000307334.5:p.Arg212Ter
ENST00000375731.8:c.721C>T	ENSP00000364883.4:p.Arg241Ter
XM_005252066.2:c.751C>T	XP_005252123.1:p.Arg251Ter
XM_005252066.3:c.751C>T	XP_005252123.1:p.Arg251Ter
XM_005252067.3:c.751C>T	XP_005252124.1:p.Arg251Ter
XM_005252067.4:c.751C>T	XP_005252124.1:p.Arg251Ter
XM_005252069.3:c.751C>T	XP_005252126.1:p.Arg251Ter
XM_005252069.4:c.751C>T	XP_005252126.1:p.Arg251Ter
XM_005252073.2:c.259C>T	XP_005252130.1:p.Arg87Ter
XM_006717150.2:c.664C>T	XP_006717213.1:p.Arg222Ter
XM_006717150.3:c.664C>T	XP_006717213.1:p.Arg222Ter
XM_011518801.1:c.397C>T	XP_011517103.1:p.Arg133Ter
XM_011518802.1:c.394C>T	XP_011517104.1:p.Arg132Ter
XM_017014849.1:c.721C>T	XP_016870338.1:p.Arg241Ter
XR_001746328.2:n.946C>T
XR_001746329.2:n.898C>T