Canonical Allele Identifier: CA385040345

Gene: AAAS

Linked Data

• dbSNP Id: rs1334746049
• gnomAD v2: 12-53702532-G-A
• gnomAD v4: 12-53308748-G-A
• MyVariant Identifiers: chr12:g.53702532G>A (hg19) ; chr12:g.53308748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308748G>A , CM000674.2:g.53308748G>A	GRCh38
NC_000012.11:g.53702532G>A , CM000674.1:g.53702532G>A	GRCh37
NC_000012.10:g.51988799G>A	NCBI36
NG_016775.1:g.17881C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1064C>T MANE Select	ENSP00000209873.4:p.Ser355Phe
ENST00000546562.6:n.2128C>T
ENST00000547238.6:n.1700C>T
ENST00000547520.6:n.1058C>T
ENST00000547757.2:c.113C>T	ENSP00000448020.2:p.Ser38Phe
ENST00000548880.2:n.1514C>T
ENST00000548931.6:c.584C>T	ENSP00000457518.1:p.Ser195Phe
ENST00000549450.6:n.998C>T
ENST00000552161.6:n.2020C>T
ENST00000672797.1:n.1553C>T
ENST00000672900.1:n.2006C>T
ENST00000209873.8:c.1064C>T	ENSP00000209873.4:p.Ser355Phe
ENST00000394384.7:c.965C>T	ENSP00000377908.3:p.Ser322Phe
ENST00000547520.5:n.768C>T
ENST00000548931.5:c.584C>T	ENSP00000457518.1:p.Ser195Phe
ENST00000550033.5:n.319C>T
ENST00000550286.5:c.692C>T	ENSP00000446885.1:p.Ser231Phe
ENST00000552876.5:n.1407C>T
NM_001173466.1:c.965C>T	NP_001166937.1:p.Ser322Phe
NM_015665.5:c.1064C>T	NP_056480.1:p.Ser355Phe
XM_006719617.2:c.1079C>T	XP_006719680.1:p.Ser360Phe
XM_011538777.1:c.1079C>T	XP_011537079.1:p.Ser360Phe
XM_011538778.1:c.1064C>T	XP_011537080.1:p.Ser355Phe
XM_011538779.1:c.980C>T	XP_011537081.1:p.Ser327Phe
XM_011538780.1:c.965C>T	XP_011537082.1:p.Ser322Phe
XM_011538781.1:c.413C>T	XP_011537083.1:p.Ser138Phe
XM_011538778.2:c.1064C>T	XP_011537080.1:p.Ser355Phe
XM_011538780.2:c.965C>T	XP_011537082.1:p.Ser322Phe
XR_001748875.2:n.1121C>T
NM_015665.6:c.1064C>T MANE Select	NP_056480.1:p.Ser355Phe
NM_001173466.2:c.965C>T	NP_001166937.1:p.Ser322Phe