Canonical Allele Identifier: CA385036890

Gene: AAAS

Linked Data

• dbSNP Id: rs1944309867
• gnomAD v4: 12-53307656-G-A
• MyVariant Identifiers: chr12:g.53701440G>A (hg19) ; chr12:g.53307656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307656G>A , CM000674.2:g.53307656G>A	GRCh38
NC_000012.11:g.53701440G>A , CM000674.1:g.53701440G>A	GRCh37
NC_000012.10:g.51987707G>A	NCBI36
NG_016775.1:g.18973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1474C>T MANE Select	ENSP00000209873.4:p.Pro492Ser
ENST00000546562.6:n.2538C>T
ENST00000547238.6:n.2110C>T
ENST00000547520.6:n.1590C>T
ENST00000547757.2:c.*392C>T	ENSP00000448020.2:n.*392C>T
ENST00000548880.2:n.1924C>T
ENST00000548931.6:c.909C>T	ENSP00000457518.1:p.Phe303=
ENST00000549450.6:n.1408C>T
ENST00000552161.6:n.2552C>T
ENST00000672797.1:n.1963C>T
ENST00000209873.8:c.1474C>T	ENSP00000209873.4:p.Pro492Ser
ENST00000394384.7:c.1375C>T	ENSP00000377908.3:p.Pro459Ser
ENST00000548931.5:c.909C>T	ENSP00000457518.1:p.Phe303=
ENST00000550286.5:c.1102C>T	ENSP00000446885.1:p.Pro368Ser
ENST00000552876.5:n.1817C>T
NM_001173466.1:c.1375C>T	NP_001166937.1:p.Pro459Ser
NM_015665.5:c.1474C>T	NP_056480.1:p.Pro492Ser
XM_006719617.2:c.1489C>T	XP_006719680.1:p.Pro497Ser
XM_011538777.1:c.1531C>T	XP_011537079.1:p.Pro511Ser
XM_011538778.1:c.1516C>T	XP_011537080.1:p.Pro506Ser
XM_011538779.1:c.1432C>T	XP_011537081.1:p.Pro478Ser
XM_011538780.1:c.1417C>T	XP_011537082.1:p.Pro473Ser
XM_011538781.1:c.865C>T	XP_011537083.1:p.Pro289Ser
XM_011538778.2:c.1516C>T	XP_011537080.1:p.Pro506Ser
XM_011538780.2:c.1417C>T	XP_011537082.1:p.Pro473Ser
XR_001748875.2:n.1531C>T
NM_015665.6:c.1474C>T MANE Select	NP_056480.1:p.Pro492Ser
NM_001173466.2:c.1375C>T	NP_001166937.1:p.Pro459Ser