Canonical Allele Identifier: CA385041623

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702948C>A (hg19) ; chr12:g.53309164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53309164C>A , CM000674.2:g.53309164C>A	GRCh38
NC_000012.11:g.53702948C>A , CM000674.1:g.53702948C>A	GRCh37
NC_000012.10:g.51989215C>A	NCBI36
NG_016775.1:g.17465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.928G>T MANE Select	ENSP00000209873.4:p.Val310Phe
ENST00000546393.7:n.1773G>T
ENST00000546562.6:n.1992G>T
ENST00000547238.6:n.1564G>T
ENST00000547520.6:n.922G>T
ENST00000547757.2:c.-24G>T	ENSP00000448020.2:n.-24G>T
ENST00000548880.2:n.1378G>T
ENST00000548931.6:c.448G>T	ENSP00000457518.1:p.Val150Phe
ENST00000549450.6:n.862G>T
ENST00000552161.6:n.1884G>T
ENST00000672797.1:n.1381G>T
ENST00000672900.1:n.1726G>T
ENST00000209873.8:c.928G>T	ENSP00000209873.4:p.Val310Phe
ENST00000394384.7:c.829G>T	ENSP00000377908.3:p.Val277Phe
ENST00000546393.6:n.825G>T
ENST00000546572.1:n.380G>T
ENST00000547520.5:n.632G>T
ENST00000547757.1:c.829G>T	ENSP00000448020.1:p.Val277Phe
ENST00000547761.6:n.820G>T
ENST00000548931.5:c.448G>T	ENSP00000457518.1:p.Val150Phe
ENST00000550033.5:n.183G>T
ENST00000550286.5:c.556G>T	ENSP00000446885.1:p.Val186Phe
ENST00000552876.5:n.1271G>T
NM_001173466.1:c.829G>T	NP_001166937.1:p.Val277Phe
NM_015665.5:c.928G>T	NP_056480.1:p.Val310Phe
XM_006719617.2:c.943G>T	XP_006719680.1:p.Val315Phe
XM_006719619.2:c.943G>T	XP_006719682.1:p.Val315Phe
XM_011538777.1:c.943G>T	XP_011537079.1:p.Val315Phe
XM_011538778.1:c.928G>T	XP_011537080.1:p.Val310Phe
XM_011538779.1:c.844G>T	XP_011537081.1:p.Val282Phe
XM_011538780.1:c.829G>T	XP_011537082.1:p.Val277Phe
XM_011538781.1:c.277G>T	XP_011537083.1:p.Val93Phe
XM_011538778.2:c.928G>T	XP_011537080.1:p.Val310Phe
XM_011538780.2:c.829G>T	XP_011537082.1:p.Val277Phe
XR_001748875.2:n.949G>T
NM_015665.6:c.928G>T MANE Select	NP_056480.1:p.Val310Phe
NM_001173466.2:c.829G>T	NP_001166937.1:p.Val277Phe