Canonical Allele Identifier: CA385034438

Gene: AAAS

Linked Data

• dbSNP Id: rs1944302933
• gnomAD v3: 12-53307497-G-A
• gnomAD v4: 12-53307497-G-A
• MyVariant Identifiers: chr12:g.53701281G>A (hg19) ; chr12:g.53307497G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307497G>A , CM000674.2:g.53307497G>A	GRCh38
NC_000012.11:g.53701281G>A , CM000674.1:g.53701281G>A	GRCh37
NC_000012.10:g.51987548G>A	NCBI36
NG_016775.1:g.19132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1633C>T MANE Select	ENSP00000209873.4:p.His545Tyr
ENST00000547757.2:c.*551C>T	ENSP00000448020.2:n.*551C>T
ENST00000548931.6:c.1068C>T	ENSP00000457518.1:p.Pro356=
ENST00000549450.6:n.1567C>T
ENST00000209873.8:c.1633C>T	ENSP00000209873.4:p.His545Tyr
ENST00000394384.7:c.1534C>T	ENSP00000377908.3:p.His512Tyr
ENST00000548931.5:c.1068C>T	ENSP00000457518.1:p.Pro356=
ENST00000550286.5:c.1261C>T	ENSP00000446885.1:p.His421Tyr
ENST00000552876.5:n.1976C>T
NM_001173466.1:c.1534C>T	NP_001166937.1:p.His512Tyr
NM_015665.5:c.1633C>T	NP_056480.1:p.His545Tyr
XM_006719617.2:c.1648C>T	XP_006719680.1:p.His550Tyr
XM_011538777.1:c.1690C>T	XP_011537079.1:p.His564Tyr
XM_011538778.1:c.1675C>T	XP_011537080.1:p.His559Tyr
XM_011538779.1:c.1591C>T	XP_011537081.1:p.His531Tyr
XM_011538780.1:c.1576C>T	XP_011537082.1:p.His526Tyr
XM_011538781.1:c.1024C>T	XP_011537083.1:p.His342Tyr
XM_011538778.2:c.1675C>T	XP_011537080.1:p.His559Tyr
XM_011538780.2:c.1576C>T	XP_011537082.1:p.His526Tyr
XR_001748875.2:n.1690C>T
NM_015665.6:c.1633C>T MANE Select	NP_056480.1:p.His545Tyr
NM_001173466.2:c.1534C>T	NP_001166937.1:p.His512Tyr