Canonical Allele Identifier: CA385034847

Gene: AAAS

Linked Data

• dbSNP Id: rs1482342165
• gnomAD v3: 12-53307553-G-T
• gnomAD v4: 12-53307553-G-T
• MyVariant Identifiers: chr12:g.53701337G>T (hg19) ; chr12:g.53307553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307553G>T , CM000674.2:g.53307553G>T	GRCh38
NC_000012.11:g.53701337G>T , CM000674.1:g.53701337G>T	GRCh37
NC_000012.10:g.51987604G>T	NCBI36
NG_016775.1:g.19076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1577C>A MANE Select	ENSP00000209873.4:p.Ala526Asp
ENST00000546562.6:n.2641C>A
ENST00000547238.6:n.2213C>A
ENST00000547520.6:n.1693C>A
ENST00000547757.2:c.*495C>A	ENSP00000448020.2:n.*495C>A
ENST00000548931.6:c.1012C>A	ENSP00000457518.1:p.Pro338Thr
ENST00000549450.6:n.1511C>A
ENST00000672797.1:n.2066C>A
ENST00000209873.8:c.1577C>A	ENSP00000209873.4:p.Ala526Asp
ENST00000394384.7:c.1478C>A	ENSP00000377908.3:p.Ala493Asp
ENST00000548931.5:c.1012C>A	ENSP00000457518.1:p.Pro338Thr
ENST00000550286.5:c.1205C>A	ENSP00000446885.1:p.Ala402Asp
ENST00000552876.5:n.1920C>A
NM_001173466.1:c.1478C>A	NP_001166937.1:p.Ala493Asp
NM_015665.5:c.1577C>A	NP_056480.1:p.Ala526Asp
XM_006719617.2:c.1592C>A	XP_006719680.1:p.Ala531Asp
XM_011538777.1:c.1634C>A	XP_011537079.1:p.Ala545Asp
XM_011538778.1:c.1619C>A	XP_011537080.1:p.Ala540Asp
XM_011538779.1:c.1535C>A	XP_011537081.1:p.Ala512Asp
XM_011538780.1:c.1520C>A	XP_011537082.1:p.Ala507Asp
XM_011538781.1:c.968C>A	XP_011537083.1:p.Ala323Asp
XM_011538778.2:c.1619C>A	XP_011537080.1:p.Ala540Asp
XM_011538780.2:c.1520C>A	XP_011537082.1:p.Ala507Asp
XR_001748875.2:n.1634C>A
NM_015665.6:c.1577C>A MANE Select	NP_056480.1:p.Ala526Asp
NM_001173466.2:c.1478C>A	NP_001166937.1:p.Ala493Asp