Canonical Allele Identifier: CA373835338

Gene: AUH

Linked Data

• dbSNP Id: rs752044125
• MyVariant Identifiers: chr9:g.93983253C>A (hg19) ; chr9:g.91220971C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91220971C>A , CM000671.2:g.91220971C>A	GRCh38
NC_000009.11:g.93983253C>A , CM000671.1:g.93983253C>A	GRCh37
NC_000009.10:g.93023074C>A	NCBI36
NG_008017.1:g.145954G>T , LRG_449:g.145954G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375731.9:c.677G>T MANE Select	ENSP00000364883.5:p.Arg226Leu
ENST00000303617.5:c.590G>T	ENSP00000307334.5:p.Arg197Leu
ENST00000375731.8:c.677G>T	ENSP00000364883.4:p.Arg226Leu
NM_001306190.1:c.590G>T	NP_001293119.1:p.Arg197Leu
NM_001698.2:c.677G>T , LRG_449t1:c.677G>T	NP_001689.1:p.Arg226Leu
XM_005252066.2:c.707G>T	XP_005252123.1:p.Arg236Leu
XM_005252067.3:c.707G>T	XP_005252124.1:p.Arg236Leu
XM_005252069.3:c.707G>T	XP_005252126.1:p.Arg236Leu
XM_005252073.2:c.215G>T	XP_005252130.1:p.Arg72Leu
XM_006717150.2:c.620G>T	XP_006717213.1:p.Arg207Leu
XM_011518801.1:c.353G>T	XP_011517103.1:p.Arg118Leu
XM_011518802.1:c.350G>T	XP_011517104.1:p.Arg117Leu
NM_001351431.1:c.350G>T	NP_001338360.1:p.Arg117Leu
NM_001351432.1:c.350G>T	NP_001338361.1:p.Arg117Leu
NM_001351433.1:c.350G>T	NP_001338362.1:p.Arg117Leu
XM_005252066.3:c.707G>T	XP_005252123.1:p.Arg236Leu
XM_005252067.4:c.707G>T	XP_005252124.1:p.Arg236Leu
XM_005252069.4:c.707G>T	XP_005252126.1:p.Arg236Leu
XM_006717150.3:c.620G>T	XP_006717213.1:p.Arg207Leu
XM_017014849.1:c.677G>T	XP_016870338.1:p.Arg226Leu
XR_001746328.2:n.902G>T
XR_001746329.2:n.854G>T
NM_001698.3:c.677G>T MANE Select	NP_001689.1:p.Arg226Leu
NM_001306190.2:c.590G>T	NP_001293119.1:p.Arg197Leu
NM_001351431.2:c.350G>T	NP_001338360.1:p.Arg117Leu
NM_001351432.2:c.350G>T	NP_001338361.1:p.Arg117Leu
NM_001351433.2:c.350G>T	NP_001338362.1:p.Arg117Leu