Canonical Allele Identifier: CA385034502

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701289G>T (hg19) ; chr12:g.53307505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307505G>T , CM000674.2:g.53307505G>T	GRCh38
NC_000012.11:g.53701289G>T , CM000674.1:g.53701289G>T	GRCh37
NC_000012.10:g.51987556G>T	NCBI36
NG_016775.1:g.19124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1625C>A MANE Select	ENSP00000209873.4:p.Pro542Gln
ENST00000546562.6:n.2689C>A
ENST00000547757.2:c.*543C>A	ENSP00000448020.2:n.*543C>A
ENST00000548931.6:c.1060C>A	ENSP00000457518.1:p.His354Asn
ENST00000549450.6:n.1559C>A
ENST00000209873.8:c.1625C>A	ENSP00000209873.4:p.Pro542Gln
ENST00000394384.7:c.1526C>A	ENSP00000377908.3:p.Pro509Gln
ENST00000548931.5:c.1060C>A	ENSP00000457518.1:p.His354Asn
ENST00000550286.5:c.1253C>A	ENSP00000446885.1:p.Pro418Gln
ENST00000552876.5:n.1968C>A
NM_001173466.1:c.1526C>A	NP_001166937.1:p.Pro509Gln
NM_015665.5:c.1625C>A	NP_056480.1:p.Pro542Gln
XM_006719617.2:c.1640C>A	XP_006719680.1:p.Pro547Gln
XM_011538777.1:c.1682C>A	XP_011537079.1:p.Pro561Gln
XM_011538778.1:c.1667C>A	XP_011537080.1:p.Pro556Gln
XM_011538779.1:c.1583C>A	XP_011537081.1:p.Pro528Gln
XM_011538780.1:c.1568C>A	XP_011537082.1:p.Pro523Gln
XM_011538781.1:c.1016C>A	XP_011537083.1:p.Pro339Gln
XM_011538778.2:c.1667C>A	XP_011537080.1:p.Pro556Gln
XM_011538780.2:c.1568C>A	XP_011537082.1:p.Pro523Gln
XR_001748875.2:n.1682C>A
NM_015665.6:c.1625C>A MANE Select	NP_056480.1:p.Pro542Gln
NM_001173466.2:c.1526C>A	NP_001166937.1:p.Pro509Gln