Canonical Allele Identifier: CA385041934

Gene: AAAS

Linked Data

• dbSNP Id: rs2121088106
• MyVariant Identifiers: chr12:g.53702992C>T (hg19) ; chr12:g.53309208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309208C>T , CM000674.2:g.53309208C>T	GRCh38
NC_000012.11:g.53702992C>T , CM000674.1:g.53702992C>T	GRCh37
NC_000012.10:g.51989259C>T	NCBI36
NG_016775.1:g.17421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.884G>A MANE Select	ENSP00000209873.4:p.Trp295Ter
ENST00000546393.7:n.1729G>A
ENST00000546562.6:n.1948G>A
ENST00000547238.6:n.1520G>A
ENST00000547520.6:n.878G>A
ENST00000547757.2:c.-68G>A	ENSP00000448020.2:n.-68G>A
ENST00000548880.2:n.1334G>A
ENST00000548931.6:c.404G>A	ENSP00000457518.1:p.Trp135Ter
ENST00000549450.6:n.818G>A
ENST00000552161.6:n.1840G>A
ENST00000672797.1:n.1337G>A
ENST00000672900.1:n.1682G>A
ENST00000209873.8:c.884G>A	ENSP00000209873.4:p.Trp295Ter
ENST00000394384.7:c.785G>A	ENSP00000377908.3:p.Trp262Ter
ENST00000546393.6:n.781G>A
ENST00000546572.1:n.336G>A
ENST00000547520.5:n.588G>A
ENST00000547757.1:c.785G>A	ENSP00000448020.1:p.Trp262Ter
ENST00000547761.6:n.776G>A
ENST00000548931.5:c.404G>A	ENSP00000457518.1:p.Trp135Ter
ENST00000550033.5:n.139G>A
ENST00000550286.5:c.512G>A	ENSP00000446885.1:p.Trp171Ter
ENST00000552876.5:n.1227G>A
NM_001173466.1:c.785G>A	NP_001166937.1:p.Trp262Ter
NM_015665.5:c.884G>A	NP_056480.1:p.Trp295Ter
XM_006719617.2:c.899G>A	XP_006719680.1:p.Trp300Ter
XM_006719619.2:c.899G>A	XP_006719682.1:p.Trp300Ter
XM_011538777.1:c.899G>A	XP_011537079.1:p.Trp300Ter
XM_011538778.1:c.884G>A	XP_011537080.1:p.Trp295Ter
XM_011538779.1:c.800G>A	XP_011537081.1:p.Trp267Ter
XM_011538780.1:c.785G>A	XP_011537082.1:p.Trp262Ter
XM_011538781.1:c.233G>A	XP_011537083.1:p.Trp78Ter
XM_011538778.2:c.884G>A	XP_011537080.1:p.Trp295Ter
XM_011538780.2:c.785G>A	XP_011537082.1:p.Trp262Ter
XR_001748875.2:n.905G>A
NM_015665.6:c.884G>A MANE Select	NP_056480.1:p.Trp295Ter
NM_001173466.2:c.785G>A	NP_001166937.1:p.Trp262Ter