Canonical Allele Identifier: CA385034823

Gene: AAAS

Linked Data

• dbSNP Id: rs373815273
• gnomAD v2: 12-53701334-G-T
• gnomAD v4: 12-53307550-G-T
• MyVariant Identifiers: chr12:g.53701334G>T (hg19) ; chr12:g.53307550G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307550G>T , CM000674.2:g.53307550G>T	GRCh38
NC_000012.11:g.53701334G>T , CM000674.1:g.53701334G>T	GRCh37
NC_000012.10:g.51987601G>T	NCBI36
NG_016775.1:g.19079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1580C>A MANE Select	ENSP00000209873.4:p.Pro527His
ENST00000546562.6:n.2644C>A
ENST00000547238.6:n.2216C>A
ENST00000547520.6:n.1696C>A
ENST00000547757.2:c.*498C>A	ENSP00000448020.2:n.*498C>A
ENST00000548931.6:c.1015C>A	ENSP00000457518.1:p.Leu339Ile
ENST00000549450.6:n.1514C>A
ENST00000672797.1:n.2069C>A
ENST00000209873.8:c.1580C>A	ENSP00000209873.4:p.Pro527His
ENST00000394384.7:c.1481C>A	ENSP00000377908.3:p.Pro494His
ENST00000548931.5:c.1015C>A	ENSP00000457518.1:p.Leu339Ile
ENST00000550286.5:c.1208C>A	ENSP00000446885.1:p.Pro403His
ENST00000552876.5:n.1923C>A
NM_001173466.1:c.1481C>A	NP_001166937.1:p.Pro494His
NM_015665.5:c.1580C>A	NP_056480.1:p.Pro527His
XM_006719617.2:c.1595C>A	XP_006719680.1:p.Pro532His
XM_011538777.1:c.1637C>A	XP_011537079.1:p.Pro546His
XM_011538778.1:c.1622C>A	XP_011537080.1:p.Pro541His
XM_011538779.1:c.1538C>A	XP_011537081.1:p.Pro513His
XM_011538780.1:c.1523C>A	XP_011537082.1:p.Pro508His
XM_011538781.1:c.971C>A	XP_011537083.1:p.Pro324His
XM_011538778.2:c.1622C>A	XP_011537080.1:p.Pro541His
XM_011538780.2:c.1523C>A	XP_011537082.1:p.Pro508His
XR_001748875.2:n.1637C>A
NM_015665.6:c.1580C>A MANE Select	NP_056480.1:p.Pro527His
NM_001173466.2:c.1481C>A	NP_001166937.1:p.Pro494His