Canonical Allele Identifier: CA385034583

Gene: AAAS

Linked Data

• gnomAD v4: 12-53307520-A-G
• MyVariant Identifiers: chr12:g.53701304A>G (hg19) ; chr12:g.53307520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307520A>G , CM000674.2:g.53307520A>G	GRCh38
NC_000012.11:g.53701304A>G , CM000674.1:g.53701304A>G	GRCh37
NC_000012.10:g.51987571A>G	NCBI36
NG_016775.1:g.19109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1610T>C MANE Select	ENSP00000209873.4:p.Val537Ala
ENST00000546562.6:n.2674T>C
ENST00000547238.6:n.2246T>C
ENST00000547757.2:c.*528T>C	ENSP00000448020.2:n.*528T>C
ENST00000548931.6:c.1045T>C	ENSP00000457518.1:p.Phe349Leu
ENST00000549450.6:n.1544T>C
ENST00000672797.1:n.2099T>C
ENST00000209873.8:c.1610T>C	ENSP00000209873.4:p.Val537Ala
ENST00000394384.7:c.1511T>C	ENSP00000377908.3:p.Val504Ala
ENST00000548931.5:c.1045T>C	ENSP00000457518.1:p.Phe349Leu
ENST00000550286.5:c.1238T>C	ENSP00000446885.1:p.Val413Ala
ENST00000552876.5:n.1953T>C
NM_001173466.1:c.1511T>C	NP_001166937.1:p.Val504Ala
NM_015665.5:c.1610T>C	NP_056480.1:p.Val537Ala
XM_006719617.2:c.1625T>C	XP_006719680.1:p.Val542Ala
XM_011538777.1:c.1667T>C	XP_011537079.1:p.Val556Ala
XM_011538778.1:c.1652T>C	XP_011537080.1:p.Val551Ala
XM_011538779.1:c.1568T>C	XP_011537081.1:p.Val523Ala
XM_011538780.1:c.1553T>C	XP_011537082.1:p.Val518Ala
XM_011538781.1:c.1001T>C	XP_011537083.1:p.Val334Ala
XM_011538778.2:c.1652T>C	XP_011537080.1:p.Val551Ala
XM_011538780.2:c.1553T>C	XP_011537082.1:p.Val518Ala
XR_001748875.2:n.1667T>C
NM_015665.6:c.1610T>C MANE Select	NP_056480.1:p.Val537Ala
NM_001173466.2:c.1511T>C	NP_001166937.1:p.Val504Ala