Canonical Allele Identifier: CA385037044

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701455C>A (hg19) ; chr12:g.53307671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307671C>A , CM000674.2:g.53307671C>A	GRCh38
NC_000012.11:g.53701455C>A , CM000674.1:g.53701455C>A	GRCh37
NC_000012.10:g.51987722C>A	NCBI36
NG_016775.1:g.18958G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1459G>T MANE Select	ENSP00000209873.4:p.Val487Phe
ENST00000546562.6:n.2523G>T
ENST00000547238.6:n.2095G>T
ENST00000547520.6:n.1575G>T
ENST00000547757.2:c.*377G>T	ENSP00000448020.2:n.*377G>T
ENST00000548880.2:n.1909G>T
ENST00000548931.6:c.894G>T	ENSP00000457518.1:p.Leu298Phe
ENST00000549450.6:n.1393G>T
ENST00000552161.6:n.2537G>T
ENST00000672797.1:n.1948G>T
ENST00000209873.8:c.1459G>T	ENSP00000209873.4:p.Val487Phe
ENST00000394384.7:c.1360G>T	ENSP00000377908.3:p.Val454Phe
ENST00000548931.5:c.894G>T	ENSP00000457518.1:p.Leu298Phe
ENST00000550286.5:c.1087G>T	ENSP00000446885.1:p.Val363Phe
ENST00000552876.5:n.1802G>T
NM_001173466.1:c.1360G>T	NP_001166937.1:p.Val454Phe
NM_015665.5:c.1459G>T	NP_056480.1:p.Val487Phe
XM_006719617.2:c.1474G>T	XP_006719680.1:p.Val492Phe
XM_011538777.1:c.1516G>T	XP_011537079.1:p.Val506Phe
XM_011538778.1:c.1501G>T	XP_011537080.1:p.Val501Phe
XM_011538779.1:c.1417G>T	XP_011537081.1:p.Val473Phe
XM_011538780.1:c.1402G>T	XP_011537082.1:p.Val468Phe
XM_011538781.1:c.850G>T	XP_011537083.1:p.Val284Phe
XM_011538778.2:c.1501G>T	XP_011537080.1:p.Val501Phe
XM_011538780.2:c.1402G>T	XP_011537082.1:p.Val468Phe
XR_001748875.2:n.1516G>T
NM_015665.6:c.1459G>T MANE Select	NP_056480.1:p.Val487Phe
NM_001173466.2:c.1360G>T	NP_001166937.1:p.Val454Phe