Canonical Allele Identifier: CA385034426

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701279G>C (hg19) ; chr12:g.53307495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307495G>C , CM000674.2:g.53307495G>C	GRCh38
NC_000012.11:g.53701279G>C , CM000674.1:g.53701279G>C	GRCh37
NC_000012.10:g.51987546G>C	NCBI36
NG_016775.1:g.19134C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1635C>G MANE Select	ENSP00000209873.4:p.His545Gln
ENST00000547757.2:c.*553C>G	ENSP00000448020.2:n.*553C>G
ENST00000548931.6:c.1070C>G	ENSP00000457518.1:p.Thr357Ser
ENST00000549450.6:n.1569C>G
ENST00000209873.8:c.1635C>G	ENSP00000209873.4:p.His545Gln
ENST00000394384.7:c.1536C>G	ENSP00000377908.3:p.His512Gln
ENST00000548931.5:c.1070C>G	ENSP00000457518.1:p.Thr357Ser
ENST00000550286.5:c.1263C>G	ENSP00000446885.1:p.His421Gln
ENST00000552876.5:n.1978C>G
NM_001173466.1:c.1536C>G	NP_001166937.1:p.His512Gln
NM_015665.5:c.1635C>G	NP_056480.1:p.His545Gln
XM_006719617.2:c.1650C>G	XP_006719680.1:p.His550Gln
XM_011538777.1:c.1692C>G	XP_011537079.1:p.His564Gln
XM_011538778.1:c.1677C>G	XP_011537080.1:p.His559Gln
XM_011538779.1:c.1593C>G	XP_011537081.1:p.His531Gln
XM_011538780.1:c.1578C>G	XP_011537082.1:p.His526Gln
XM_011538781.1:c.1026C>G	XP_011537083.1:p.His342Gln
XM_011538778.2:c.1677C>G	XP_011537080.1:p.His559Gln
XM_011538780.2:c.1578C>G	XP_011537082.1:p.His526Gln
XR_001748875.2:n.1692C>G
NM_015665.6:c.1635C>G MANE Select	NP_056480.1:p.His545Gln
NM_001173466.2:c.1536C>G	NP_001166937.1:p.His512Gln