Canonical Allele Identifier: CA385034708

Gene: AAAS

Linked Data

• dbSNP Id: rs2121079149
• MyVariant Identifiers: chr12:g.53701320G>A (hg19) ; chr12:g.53307536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307536G>A , CM000674.2:g.53307536G>A	GRCh38
NC_000012.11:g.53701320G>A , CM000674.1:g.53701320G>A	GRCh37
NC_000012.10:g.51987587G>A	NCBI36
NG_016775.1:g.19093C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1594C>T MANE Select	ENSP00000209873.4:p.Pro532Ser
ENST00000546562.6:n.2658C>T
ENST00000547238.6:n.2230C>T
ENST00000547757.2:c.*512C>T	ENSP00000448020.2:n.*512C>T
ENST00000548931.6:c.1029C>T	ENSP00000457518.1:p.Ser343=
ENST00000549450.6:n.1528C>T
ENST00000672797.1:n.2083C>T
ENST00000209873.8:c.1594C>T	ENSP00000209873.4:p.Pro532Ser
ENST00000394384.7:c.1495C>T	ENSP00000377908.3:p.Pro499Ser
ENST00000548931.5:c.1029C>T	ENSP00000457518.1:p.Ser343=
ENST00000550286.5:c.1222C>T	ENSP00000446885.1:p.Pro408Ser
ENST00000552876.5:n.1937C>T
NM_001173466.1:c.1495C>T	NP_001166937.1:p.Pro499Ser
NM_015665.5:c.1594C>T	NP_056480.1:p.Pro532Ser
XM_006719617.2:c.1609C>T	XP_006719680.1:p.Pro537Ser
XM_011538777.1:c.1651C>T	XP_011537079.1:p.Pro551Ser
XM_011538778.1:c.1636C>T	XP_011537080.1:p.Pro546Ser
XM_011538779.1:c.1552C>T	XP_011537081.1:p.Pro518Ser
XM_011538780.1:c.1537C>T	XP_011537082.1:p.Pro513Ser
XM_011538781.1:c.985C>T	XP_011537083.1:p.Pro329Ser
XM_011538778.2:c.1636C>T	XP_011537080.1:p.Pro546Ser
XM_011538780.2:c.1537C>T	XP_011537082.1:p.Pro513Ser
XR_001748875.2:n.1651C>T
NM_015665.6:c.1594C>T MANE Select	NP_056480.1:p.Pro532Ser
NM_001173466.2:c.1495C>T	NP_001166937.1:p.Pro499Ser