Canonical Allele Identifier: CA385036879

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701439G>T (hg19) ; chr12:g.53307655G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307655G>T , CM000674.2:g.53307655G>T	GRCh38
NC_000012.11:g.53701439G>T , CM000674.1:g.53701439G>T	GRCh37
NC_000012.10:g.51987706G>T	NCBI36
NG_016775.1:g.18974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1475C>A MANE Select	ENSP00000209873.4:p.Pro492Gln
ENST00000546562.6:n.2539C>A
ENST00000547238.6:n.2111C>A
ENST00000547520.6:n.1591C>A
ENST00000547757.2:c.*393C>A	ENSP00000448020.2:n.*393C>A
ENST00000548880.2:n.1925C>A
ENST00000548931.6:c.910C>A	ENSP00000457518.1:p.His304Asn
ENST00000549450.6:n.1409C>A
ENST00000552161.6:n.2553C>A
ENST00000672797.1:n.1964C>A
ENST00000209873.8:c.1475C>A	ENSP00000209873.4:p.Pro492Gln
ENST00000394384.7:c.1376C>A	ENSP00000377908.3:p.Pro459Gln
ENST00000548931.5:c.910C>A	ENSP00000457518.1:p.His304Asn
ENST00000550286.5:c.1103C>A	ENSP00000446885.1:p.Pro368Gln
ENST00000552876.5:n.1818C>A
NM_001173466.1:c.1376C>A	NP_001166937.1:p.Pro459Gln
NM_015665.5:c.1475C>A	NP_056480.1:p.Pro492Gln
XM_006719617.2:c.1490C>A	XP_006719680.1:p.Pro497Gln
XM_011538777.1:c.1532C>A	XP_011537079.1:p.Pro511Gln
XM_011538778.1:c.1517C>A	XP_011537080.1:p.Pro506Gln
XM_011538779.1:c.1433C>A	XP_011537081.1:p.Pro478Gln
XM_011538780.1:c.1418C>A	XP_011537082.1:p.Pro473Gln
XM_011538781.1:c.866C>A	XP_011537083.1:p.Pro289Gln
XM_011538778.2:c.1517C>A	XP_011537080.1:p.Pro506Gln
XM_011538780.2:c.1418C>A	XP_011537082.1:p.Pro473Gln
XR_001748875.2:n.1532C>A
NM_015665.6:c.1475C>A MANE Select	NP_056480.1:p.Pro492Gln
NM_001173466.2:c.1376C>A	NP_001166937.1:p.Pro459Gln