Canonical Allele Identifier: CA385041079

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702755C>G (hg19) ; chr12:g.53308971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308971C>G , CM000674.2:g.53308971C>G	GRCh38
NC_000012.11:g.53702755C>G , CM000674.1:g.53702755C>G	GRCh37
NC_000012.10:g.51989022C>G	NCBI36
NG_016775.1:g.17658G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.985G>C MANE Select	ENSP00000209873.4:p.Gly329Arg
ENST00000546393.7:n.1830G>C
ENST00000546562.6:n.2049G>C
ENST00000547238.6:n.1621G>C
ENST00000547520.6:n.979G>C
ENST00000547757.2:c.34G>C	ENSP00000448020.2:p.Gly12Arg
ENST00000548880.2:n.1435G>C
ENST00000548931.6:c.505G>C	ENSP00000457518.1:p.Gly169Arg
ENST00000549450.6:n.919G>C
ENST00000552161.6:n.1941G>C
ENST00000672797.1:n.1438G>C
ENST00000672900.1:n.1783G>C
ENST00000209873.8:c.985G>C	ENSP00000209873.4:p.Gly329Arg
ENST00000394384.7:c.886G>C	ENSP00000377908.3:p.Gly296Arg
ENST00000546572.1:n.573G>C
ENST00000547520.5:n.689G>C
ENST00000548931.5:c.505G>C	ENSP00000457518.1:p.Gly169Arg
ENST00000550033.5:n.240G>C
ENST00000550286.5:c.613G>C	ENSP00000446885.1:p.Gly205Arg
ENST00000552876.5:n.1328G>C
NM_001173466.1:c.886G>C	NP_001166937.1:p.Gly296Arg
NM_015665.5:c.985G>C	NP_056480.1:p.Gly329Arg
XM_006719617.2:c.1000G>C	XP_006719680.1:p.Gly334Arg
XM_006719619.2:c.1000G>C	XP_006719682.1:p.Gly334Arg
XM_011538777.1:c.1000G>C	XP_011537079.1:p.Gly334Arg
XM_011538778.1:c.985G>C	XP_011537080.1:p.Gly329Arg
XM_011538779.1:c.901G>C	XP_011537081.1:p.Gly301Arg
XM_011538780.1:c.886G>C	XP_011537082.1:p.Gly296Arg
XM_011538781.1:c.334G>C	XP_011537083.1:p.Gly112Arg
XM_011538778.2:c.985G>C	XP_011537080.1:p.Gly329Arg
XM_011538780.2:c.886G>C	XP_011537082.1:p.Gly296Arg
XR_001748875.2:n.1006G>C
NM_015665.6:c.985G>C MANE Select	NP_056480.1:p.Gly329Arg
NM_001173466.2:c.886G>C	NP_001166937.1:p.Gly296Arg