Canonical Allele Identifier: CA385041068

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702754C>G (hg19) ; chr12:g.53308970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308970C>G , CM000674.2:g.53308970C>G	GRCh38
NC_000012.11:g.53702754C>G , CM000674.1:g.53702754C>G	GRCh37
NC_000012.10:g.51989021C>G	NCBI36
NG_016775.1:g.17659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.986G>C MANE Select	ENSP00000209873.4:p.Gly329Ala
ENST00000546393.7:n.1831G>C
ENST00000546562.6:n.2050G>C
ENST00000547238.6:n.1622G>C
ENST00000547520.6:n.980G>C
ENST00000547757.2:c.35G>C	ENSP00000448020.2:p.Gly12Ala
ENST00000548880.2:n.1436G>C
ENST00000548931.6:c.506G>C	ENSP00000457518.1:p.Gly169Ala
ENST00000549450.6:n.920G>C
ENST00000552161.6:n.1942G>C
ENST00000672797.1:n.1439G>C
ENST00000672900.1:n.1784G>C
ENST00000209873.8:c.986G>C	ENSP00000209873.4:p.Gly329Ala
ENST00000394384.7:c.887G>C	ENSP00000377908.3:p.Gly296Ala
ENST00000546572.1:n.574G>C
ENST00000547520.5:n.690G>C
ENST00000548931.5:c.506G>C	ENSP00000457518.1:p.Gly169Ala
ENST00000550033.5:n.241G>C
ENST00000550286.5:c.614G>C	ENSP00000446885.1:p.Gly205Ala
ENST00000552876.5:n.1329G>C
NM_001173466.1:c.887G>C	NP_001166937.1:p.Gly296Ala
NM_015665.5:c.986G>C	NP_056480.1:p.Gly329Ala
XM_006719617.2:c.1001G>C	XP_006719680.1:p.Gly334Ala
XM_006719619.2:c.1001G>C	XP_006719682.1:p.Gly334Ala
XM_011538777.1:c.1001G>C	XP_011537079.1:p.Gly334Ala
XM_011538778.1:c.986G>C	XP_011537080.1:p.Gly329Ala
XM_011538779.1:c.902G>C	XP_011537081.1:p.Gly301Ala
XM_011538780.1:c.887G>C	XP_011537082.1:p.Gly296Ala
XM_011538781.1:c.335G>C	XP_011537083.1:p.Gly112Ala
XM_011538778.2:c.986G>C	XP_011537080.1:p.Gly329Ala
XM_011538780.2:c.887G>C	XP_011537082.1:p.Gly296Ala
XR_001748875.2:n.1007G>C
NM_015665.6:c.986G>C MANE Select	NP_056480.1:p.Gly329Ala
NM_001173466.2:c.887G>C	NP_001166937.1:p.Gly296Ala