Canonical Allele Identifier: CA385041329

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702783C>A (hg19) ; chr12:g.53308999C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308999C>A , CM000674.2:g.53308999C>A	GRCh38
NC_000012.11:g.53702783C>A , CM000674.1:g.53702783C>A	GRCh37
NC_000012.10:g.51989050C>A	NCBI36
NG_016775.1:g.17630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.957G>T MANE Select	ENSP00000209873.4:p.Trp319Cys
ENST00000546393.7:n.1802G>T
ENST00000546562.6:n.2021G>T
ENST00000547238.6:n.1593G>T
ENST00000547520.6:n.951G>T
ENST00000547757.2:c.6G>T	ENSP00000448020.2:p.Trp2Cys
ENST00000548880.2:n.1407G>T
ENST00000548931.6:c.477G>T	ENSP00000457518.1:p.Trp159Cys
ENST00000549450.6:n.891G>T
ENST00000552161.6:n.1913G>T
ENST00000672797.1:n.1410G>T
ENST00000672900.1:n.1755G>T
ENST00000209873.8:c.957G>T	ENSP00000209873.4:p.Trp319Cys
ENST00000394384.7:c.858G>T	ENSP00000377908.3:p.Trp286Cys
ENST00000546572.1:n.545G>T
ENST00000547520.5:n.661G>T
ENST00000548931.5:c.477G>T	ENSP00000457518.1:p.Trp159Cys
ENST00000550033.5:n.212G>T
ENST00000550286.5:c.585G>T	ENSP00000446885.1:p.Trp195Cys
ENST00000552876.5:n.1300G>T
NM_001173466.1:c.858G>T	NP_001166937.1:p.Trp286Cys
NM_015665.5:c.957G>T	NP_056480.1:p.Trp319Cys
XM_006719617.2:c.972G>T	XP_006719680.1:p.Trp324Cys
XM_006719619.2:c.972G>T	XP_006719682.1:p.Trp324Cys
XM_011538777.1:c.972G>T	XP_011537079.1:p.Trp324Cys
XM_011538778.1:c.957G>T	XP_011537080.1:p.Trp319Cys
XM_011538779.1:c.873G>T	XP_011537081.1:p.Trp291Cys
XM_011538780.1:c.858G>T	XP_011537082.1:p.Trp286Cys
XM_011538781.1:c.306G>T	XP_011537083.1:p.Trp102Cys
XM_011538778.2:c.957G>T	XP_011537080.1:p.Trp319Cys
XM_011538780.2:c.858G>T	XP_011537082.1:p.Trp286Cys
XR_001748875.2:n.978G>T
NM_015665.6:c.957G>T MANE Select	NP_056480.1:p.Trp319Cys
NM_001173466.2:c.858G>T	NP_001166937.1:p.Trp286Cys