Canonical Allele Identifier: CA385040203

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702515G>C (hg19) ; chr12:g.53308731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308731G>C , CM000674.2:g.53308731G>C	GRCh38
NC_000012.11:g.53702515G>C , CM000674.1:g.53702515G>C	GRCh37
NC_000012.10:g.51988782G>C	NCBI36
NG_016775.1:g.17898C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1081C>G MANE Select	ENSP00000209873.4:p.Arg361Gly
ENST00000546562.6:n.2145C>G
ENST00000547238.6:n.1717C>G
ENST00000547520.6:n.1075C>G
ENST00000547757.2:c.130C>G	ENSP00000448020.2:p.Arg44Gly
ENST00000548880.2:n.1531C>G
ENST00000548931.6:c.601C>G	ENSP00000457518.1:p.Arg201Gly
ENST00000549450.6:n.1015C>G
ENST00000552161.6:n.2037C>G
ENST00000672797.1:n.1570C>G
ENST00000672900.1:n.2023C>G
ENST00000209873.8:c.1081C>G	ENSP00000209873.4:p.Arg361Gly
ENST00000394384.7:c.982C>G	ENSP00000377908.3:p.Arg328Gly
ENST00000548931.5:c.601C>G	ENSP00000457518.1:p.Arg201Gly
ENST00000550033.5:n.336C>G
ENST00000550286.5:c.709C>G	ENSP00000446885.1:p.Arg237Gly
ENST00000552876.5:n.1424C>G
NM_001173466.1:c.982C>G	NP_001166937.1:p.Arg328Gly
NM_015665.5:c.1081C>G	NP_056480.1:p.Arg361Gly
XM_006719617.2:c.1096C>G	XP_006719680.1:p.Arg366Gly
XM_011538777.1:c.1096C>G	XP_011537079.1:p.Arg366Gly
XM_011538778.1:c.1081C>G	XP_011537080.1:p.Arg361Gly
XM_011538779.1:c.997C>G	XP_011537081.1:p.Arg333Gly
XM_011538780.1:c.982C>G	XP_011537082.1:p.Arg328Gly
XM_011538781.1:c.430C>G	XP_011537083.1:p.Arg144Gly
XM_011538778.2:c.1081C>G	XP_011537080.1:p.Arg361Gly
XM_011538780.2:c.982C>G	XP_011537082.1:p.Arg328Gly
XR_001748875.2:n.1138C>G
NM_015665.6:c.1081C>G MANE Select	NP_056480.1:p.Arg361Gly
NM_001173466.2:c.982C>G	NP_001166937.1:p.Arg328Gly