Canonical Allele Identifier: CA6599181

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53314832C>T , CM000674.2:g.53314832C>T	GRCh38
NC_000012.11:g.53708616C>T , CM000674.1:g.53708616C>T	GRCh37
NC_000012.10:g.51994883C>T	NCBI36
NG_016775.1:g.11797G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.464G>A MANE Select	NP_056480.1:p.Arg155His
ENST00000209873.9:c.464G>A MANE Select	ENSP00000209873.4:p.Arg155His
NM_001173466.1:c.446+262G>A	NP_001166937.1:n.446+262G>A
NM_001173466.2:c.446+262G>A	NP_001166937.1:n.446+262G>A
NM_015665.5:c.464G>A	NP_056480.1:p.Arg155His
ENST00000209873.8:c.464G>A	ENSP00000209873.4:p.Arg155His
ENST00000394384.7:c.446+262G>A	ENSP00000377908.3:n.446+262G>A
ENST00000546393.6:n.52G>A
ENST00000546393.7:n.1000G>A
ENST00000546562.6:n.1219G>A
ENST00000547238.5:n.857G>A
ENST00000547238.6:n.1100G>A
ENST00000547520.5:n.168G>A
ENST00000547520.6:n.458G>A
ENST00000547757.1:c.446+262G>A	ENSP00000448020.1:n.446+262G>A
ENST00000547757.2:c.-407+262G>A	ENSP00000448020.2:n.-407+262G>A
ENST00000547761.6:n.356G>A
ENST00000548258.5:n.492G>A
ENST00000548880.2:n.914G>A
ENST00000549450.5:n.458G>A
ENST00000549450.6:n.398G>A
ENST00000549821.5:n.462G>A
ENST00000549983.5:n.487G>A
ENST00000550286.5:c.92G>A	ENSP00000446885.1:p.Arg31His
ENST00000551724.5:n.514G>A
ENST00000552161.6:n.1420G>A
ENST00000552876.5:n.888+262G>A
ENST00000672797.1:n.917G>A
ENST00000672900.1:n.953G>A
XM_006719617.2:c.479G>A	XP_006719680.1:p.Arg160His
XM_006719619.2:c.479G>A	XP_006719682.1:p.Arg160His
XM_011538777.1:c.479G>A	XP_011537079.1:p.Arg160His
XM_011538778.1:c.464G>A	XP_011537080.1:p.Arg155His
XM_011538778.2:c.464G>A	XP_011537080.1:p.Arg155His
XM_011538779.1:c.461+262G>A	XP_011537081.1:n.461+262G>A
XM_011538780.1:c.446+262G>A	XP_011537082.1:n.446+262G>A
XM_011538780.2:c.446+262G>A	XP_011537082.1:n.446+262G>A
XR_001748875.2:n.566+262G>A