Canonical Allele Identifier: CA385034484

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701287G>C (hg19) ; chr12:g.53307503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307503G>C , CM000674.2:g.53307503G>C	GRCh38
NC_000012.11:g.53701287G>C , CM000674.1:g.53701287G>C	GRCh37
NC_000012.10:g.51987554G>C	NCBI36
NG_016775.1:g.19126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1627C>G MANE Select	ENSP00000209873.4:p.His543Asp
ENST00000547757.2:c.*545C>G	ENSP00000448020.2:n.*545C>G
ENST00000548931.6:c.1062C>G	ENSP00000457518.1:p.His354Gln
ENST00000549450.6:n.1561C>G
ENST00000209873.8:c.1627C>G	ENSP00000209873.4:p.His543Asp
ENST00000394384.7:c.1528C>G	ENSP00000377908.3:p.His510Asp
ENST00000548931.5:c.1062C>G	ENSP00000457518.1:p.His354Gln
ENST00000550286.5:c.1255C>G	ENSP00000446885.1:p.His419Asp
ENST00000552876.5:n.1970C>G
NM_001173466.1:c.1528C>G	NP_001166937.1:p.His510Asp
NM_015665.5:c.1627C>G	NP_056480.1:p.His543Asp
XM_006719617.2:c.1642C>G	XP_006719680.1:p.His548Asp
XM_011538777.1:c.1684C>G	XP_011537079.1:p.His562Asp
XM_011538778.1:c.1669C>G	XP_011537080.1:p.His557Asp
XM_011538779.1:c.1585C>G	XP_011537081.1:p.His529Asp
XM_011538780.1:c.1570C>G	XP_011537082.1:p.His524Asp
XM_011538781.1:c.1018C>G	XP_011537083.1:p.His340Asp
XM_011538778.2:c.1669C>G	XP_011537080.1:p.His557Asp
XM_011538780.2:c.1570C>G	XP_011537082.1:p.His524Asp
XR_001748875.2:n.1684C>G
NM_015665.6:c.1627C>G MANE Select	NP_056480.1:p.His543Asp
NM_001173466.2:c.1528C>G	NP_001166937.1:p.His510Asp