Canonical Allele Identifier: CA385034560

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307515-G-T
• MyVariant Identifiers: chr12:g.53701299G>T (hg19) ; chr12:g.53307515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307515G>T , CM000674.2:g.53307515G>T	GRCh38
NC_000012.11:g.53701299G>T , CM000674.1:g.53701299G>T	GRCh37
NC_000012.10:g.51987566G>T	NCBI36
NG_016775.1:g.19114C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1615C>A MANE Select	ENSP00000209873.4:p.Pro539Thr
ENST00000546562.6:n.2679C>A
ENST00000547757.2:c.*533C>A	ENSP00000448020.2:n.*533C>A
ENST00000548931.6:c.1050C>A	ENSP00000457518.1:p.Cys350Ter
ENST00000549450.6:n.1549C>A
ENST00000209873.8:c.1615C>A	ENSP00000209873.4:p.Pro539Thr
ENST00000394384.7:c.1516C>A	ENSP00000377908.3:p.Pro506Thr
ENST00000548931.5:c.1050C>A	ENSP00000457518.1:p.Cys350Ter
ENST00000550286.5:c.1243C>A	ENSP00000446885.1:p.Pro415Thr
ENST00000552876.5:n.1958C>A
NM_001173466.1:c.1516C>A	NP_001166937.1:p.Pro506Thr
NM_015665.5:c.1615C>A	NP_056480.1:p.Pro539Thr
XM_006719617.2:c.1630C>A	XP_006719680.1:p.Pro544Thr
XM_011538777.1:c.1672C>A	XP_011537079.1:p.Pro558Thr
XM_011538778.1:c.1657C>A	XP_011537080.1:p.Pro553Thr
XM_011538779.1:c.1573C>A	XP_011537081.1:p.Pro525Thr
XM_011538780.1:c.1558C>A	XP_011537082.1:p.Pro520Thr
XM_011538781.1:c.1006C>A	XP_011537083.1:p.Pro336Thr
XM_011538778.2:c.1657C>A	XP_011537080.1:p.Pro553Thr
XM_011538780.2:c.1558C>A	XP_011537082.1:p.Pro520Thr
XR_001748875.2:n.1672C>A
NM_015665.6:c.1615C>A MANE Select	NP_056480.1:p.Pro539Thr
NM_001173466.2:c.1516C>A	NP_001166937.1:p.Pro506Thr