Canonical Allele Identifier: CA385037074

Gene: AAAS

Linked Data

• dbSNP Id: rs2121080119
• MyVariant Identifiers: chr12:g.53701457A>C (hg19) ; chr12:g.53307673A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307673A>C , CM000674.2:g.53307673A>C	GRCh38
NC_000012.11:g.53701457A>C , CM000674.1:g.53701457A>C	GRCh37
NC_000012.10:g.51987724A>C	NCBI36
NG_016775.1:g.18956T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1457T>G MANE Select	ENSP00000209873.4:p.Phe486Cys
ENST00000546562.6:n.2521T>G
ENST00000547238.6:n.2093T>G
ENST00000547520.6:n.1573T>G
ENST00000547757.2:c.*375T>G	ENSP00000448020.2:n.*375T>G
ENST00000548880.2:n.1907T>G
ENST00000548931.6:c.892T>G	ENSP00000457518.1:p.Leu298Val
ENST00000549450.6:n.1391T>G
ENST00000552161.6:n.2535T>G
ENST00000672797.1:n.1946T>G
ENST00000209873.8:c.1457T>G	ENSP00000209873.4:p.Phe486Cys
ENST00000394384.7:c.1358T>G	ENSP00000377908.3:p.Phe453Cys
ENST00000548931.5:c.892T>G	ENSP00000457518.1:p.Leu298Val
ENST00000550286.5:c.1085T>G	ENSP00000446885.1:p.Phe362Cys
ENST00000552876.5:n.1800T>G
NM_001173466.1:c.1358T>G	NP_001166937.1:p.Phe453Cys
NM_015665.5:c.1457T>G	NP_056480.1:p.Phe486Cys
XM_006719617.2:c.1472T>G	XP_006719680.1:p.Phe491Cys
XM_011538777.1:c.1514T>G	XP_011537079.1:p.Phe505Cys
XM_011538778.1:c.1499T>G	XP_011537080.1:p.Phe500Cys
XM_011538779.1:c.1415T>G	XP_011537081.1:p.Phe472Cys
XM_011538780.1:c.1400T>G	XP_011537082.1:p.Phe467Cys
XM_011538781.1:c.848T>G	XP_011537083.1:p.Phe283Cys
XM_011538778.2:c.1499T>G	XP_011537080.1:p.Phe500Cys
XM_011538780.2:c.1400T>G	XP_011537082.1:p.Phe467Cys
XR_001748875.2:n.1514T>G
NM_015665.6:c.1457T>G MANE Select	NP_056480.1:p.Phe486Cys
NM_001173466.2:c.1358T>G	NP_001166937.1:p.Phe453Cys