Canonical Allele Identifier: CA385041212

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702771C>G (hg19) ; chr12:g.53308987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308987C>G , CM000674.2:g.53308987C>G	GRCh38
NC_000012.11:g.53702771C>G , CM000674.1:g.53702771C>G	GRCh37
NC_000012.10:g.51989038C>G	NCBI36
NG_016775.1:g.17642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.969G>C MANE Select	ENSP00000209873.4:p.Arg323Ser
ENST00000546393.7:n.1814G>C
ENST00000546562.6:n.2033G>C
ENST00000547238.6:n.1605G>C
ENST00000547520.6:n.963G>C
ENST00000547757.2:c.18G>C	ENSP00000448020.2:p.Arg6Ser
ENST00000548880.2:n.1419G>C
ENST00000548931.6:c.489G>C	ENSP00000457518.1:p.Arg163Ser
ENST00000549450.6:n.903G>C
ENST00000552161.6:n.1925G>C
ENST00000672797.1:n.1422G>C
ENST00000672900.1:n.1767G>C
ENST00000209873.8:c.969G>C	ENSP00000209873.4:p.Arg323Ser
ENST00000394384.7:c.870G>C	ENSP00000377908.3:p.Arg290Ser
ENST00000546572.1:n.557G>C
ENST00000547520.5:n.673G>C
ENST00000548931.5:c.489G>C	ENSP00000457518.1:p.Arg163Ser
ENST00000550033.5:n.224G>C
ENST00000550286.5:c.597G>C	ENSP00000446885.1:p.Arg199Ser
ENST00000552876.5:n.1312G>C
NM_001173466.1:c.870G>C	NP_001166937.1:p.Arg290Ser
NM_015665.5:c.969G>C	NP_056480.1:p.Arg323Ser
XM_006719617.2:c.984G>C	XP_006719680.1:p.Arg328Ser
XM_006719619.2:c.984G>C	XP_006719682.1:p.Arg328Ser
XM_011538777.1:c.984G>C	XP_011537079.1:p.Arg328Ser
XM_011538778.1:c.969G>C	XP_011537080.1:p.Arg323Ser
XM_011538779.1:c.885G>C	XP_011537081.1:p.Arg295Ser
XM_011538780.1:c.870G>C	XP_011537082.1:p.Arg290Ser
XM_011538781.1:c.318G>C	XP_011537083.1:p.Arg106Ser
XM_011538778.2:c.969G>C	XP_011537080.1:p.Arg323Ser
XM_011538780.2:c.870G>C	XP_011537082.1:p.Arg290Ser
XR_001748875.2:n.990G>C
NM_015665.6:c.969G>C MANE Select	NP_056480.1:p.Arg323Ser
NM_001173466.2:c.870G>C	NP_001166937.1:p.Arg290Ser