Canonical Allele Identifier: CA385041214

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702772C>A (hg19) ; chr12:g.53308988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308988C>A , CM000674.2:g.53308988C>A	GRCh38
NC_000012.11:g.53702772C>A , CM000674.1:g.53702772C>A	GRCh37
NC_000012.10:g.51989039C>A	NCBI36
NG_016775.1:g.17641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.968G>T MANE Select	ENSP00000209873.4:p.Arg323Met
ENST00000546393.7:n.1813G>T
ENST00000546562.6:n.2032G>T
ENST00000547238.6:n.1604G>T
ENST00000547520.6:n.962G>T
ENST00000547757.2:c.17G>T	ENSP00000448020.2:p.Arg6Met
ENST00000548880.2:n.1418G>T
ENST00000548931.6:c.488G>T	ENSP00000457518.1:p.Arg163Met
ENST00000549450.6:n.902G>T
ENST00000552161.6:n.1924G>T
ENST00000672797.1:n.1421G>T
ENST00000672900.1:n.1766G>T
ENST00000209873.8:c.968G>T	ENSP00000209873.4:p.Arg323Met
ENST00000394384.7:c.869G>T	ENSP00000377908.3:p.Arg290Met
ENST00000546572.1:n.556G>T
ENST00000547520.5:n.672G>T
ENST00000548931.5:c.488G>T	ENSP00000457518.1:p.Arg163Met
ENST00000550033.5:n.223G>T
ENST00000550286.5:c.596G>T	ENSP00000446885.1:p.Arg199Met
ENST00000552876.5:n.1311G>T
NM_001173466.1:c.869G>T	NP_001166937.1:p.Arg290Met
NM_015665.5:c.968G>T	NP_056480.1:p.Arg323Met
XM_006719617.2:c.983G>T	XP_006719680.1:p.Arg328Met
XM_006719619.2:c.983G>T	XP_006719682.1:p.Arg328Met
XM_011538777.1:c.983G>T	XP_011537079.1:p.Arg328Met
XM_011538778.1:c.968G>T	XP_011537080.1:p.Arg323Met
XM_011538779.1:c.884G>T	XP_011537081.1:p.Arg295Met
XM_011538780.1:c.869G>T	XP_011537082.1:p.Arg290Met
XM_011538781.1:c.317G>T	XP_011537083.1:p.Arg106Met
XM_011538778.2:c.968G>T	XP_011537080.1:p.Arg323Met
XM_011538780.2:c.869G>T	XP_011537082.1:p.Arg290Met
XR_001748875.2:n.989G>T
NM_015665.6:c.968G>T MANE Select	NP_056480.1:p.Arg323Met
NM_001173466.2:c.869G>T	NP_001166937.1:p.Arg290Met