Canonical Allele Identifier: CA6598788

Gene: AAAS

Linked Data

• dbSNP Id: rs746012321
• ExAC: 12:53701290 G / T
• gnomAD v2: 12-53701290-G-T
• gnomAD v4: 12-53307506-G-T
• MyVariant Identifiers: chr12:g.53701290G>T (hg19) ; chr12:g.53307506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307506G>T , CM000674.2:g.53307506G>T	GRCh38
NC_000012.11:g.53701290G>T , CM000674.1:g.53701290G>T	GRCh37
NC_000012.10:g.51987557G>T	NCBI36
NG_016775.1:g.19123C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1624C>A MANE Select	ENSP00000209873.4:p.Pro542Thr
ENST00000546562.6:n.2688C>A
ENST00000547757.2:c.*542C>A	ENSP00000448020.2:n.*542C>A
ENST00000548931.6:c.1059C>A	ENSP00000457518.1:p.Pro353=
ENST00000549450.6:n.1558C>A
ENST00000209873.8:c.1624C>A	ENSP00000209873.4:p.Pro542Thr
ENST00000394384.7:c.1525C>A	ENSP00000377908.3:p.Pro509Thr
ENST00000548931.5:c.1059C>A	ENSP00000457518.1:p.Pro353=
ENST00000550286.5:c.1252C>A	ENSP00000446885.1:p.Pro418Thr
ENST00000552876.5:n.1967C>A
NM_001173466.1:c.1525C>A	NP_001166937.1:p.Pro509Thr
NM_015665.5:c.1624C>A	NP_056480.1:p.Pro542Thr
XM_006719617.2:c.1639C>A	XP_006719680.1:p.Pro547Thr
XM_011538777.1:c.1681C>A	XP_011537079.1:p.Pro561Thr
XM_011538778.1:c.1666C>A	XP_011537080.1:p.Pro556Thr
XM_011538779.1:c.1582C>A	XP_011537081.1:p.Pro528Thr
XM_011538780.1:c.1567C>A	XP_011537082.1:p.Pro523Thr
XM_011538781.1:c.1015C>A	XP_011537083.1:p.Pro339Thr
XM_011538778.2:c.1666C>A	XP_011537080.1:p.Pro556Thr
XM_011538780.2:c.1567C>A	XP_011537082.1:p.Pro523Thr
XR_001748875.2:n.1681C>A
NM_015665.6:c.1624C>A MANE Select	NP_056480.1:p.Pro542Thr
NM_001173466.2:c.1525C>A	NP_001166937.1:p.Pro509Thr