Canonical Allele Identifier: CA385040422

Gene: AAAS

Linked Data

• dbSNP Id: rs1436065995
• gnomAD v2: 12-53702542-G-C
• gnomAD v3: 12-53308758-G-C
• gnomAD v4: 12-53308758-G-C
• MyVariant Identifiers: chr12:g.53702542G>C (hg19) ; chr12:g.53308758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308758G>C , CM000674.2:g.53308758G>C	GRCh38
NC_000012.11:g.53702542G>C , CM000674.1:g.53702542G>C	GRCh37
NC_000012.10:g.51988809G>C	NCBI36
NG_016775.1:g.17871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1054C>G MANE Select	ENSP00000209873.4:p.Leu352Val
ENST00000546562.6:n.2118C>G
ENST00000547238.6:n.1690C>G
ENST00000547520.6:n.1048C>G
ENST00000547757.2:c.103C>G	ENSP00000448020.2:p.Leu35Val
ENST00000548880.2:n.1504C>G
ENST00000548931.6:c.574C>G	ENSP00000457518.1:p.Leu192Val
ENST00000549450.6:n.988C>G
ENST00000552161.6:n.2010C>G
ENST00000672797.1:n.1543C>G
ENST00000672900.1:n.1996C>G
ENST00000209873.8:c.1054C>G	ENSP00000209873.4:p.Leu352Val
ENST00000394384.7:c.955C>G	ENSP00000377908.3:p.Leu319Val
ENST00000547520.5:n.758C>G
ENST00000548931.5:c.574C>G	ENSP00000457518.1:p.Leu192Val
ENST00000550033.5:n.309C>G
ENST00000550286.5:c.682C>G	ENSP00000446885.1:p.Leu228Val
ENST00000552876.5:n.1397C>G
NM_001173466.1:c.955C>G	NP_001166937.1:p.Leu319Val
NM_015665.5:c.1054C>G	NP_056480.1:p.Leu352Val
XM_006719617.2:c.1069C>G	XP_006719680.1:p.Leu357Val
XM_011538777.1:c.1069C>G	XP_011537079.1:p.Leu357Val
XM_011538778.1:c.1054C>G	XP_011537080.1:p.Leu352Val
XM_011538779.1:c.970C>G	XP_011537081.1:p.Leu324Val
XM_011538780.1:c.955C>G	XP_011537082.1:p.Leu319Val
XM_011538781.1:c.403C>G	XP_011537083.1:p.Leu135Val
XM_011538778.2:c.1054C>G	XP_011537080.1:p.Leu352Val
XM_011538780.2:c.955C>G	XP_011537082.1:p.Leu319Val
XR_001748875.2:n.1111C>G
NM_015665.6:c.1054C>G MANE Select	NP_056480.1:p.Leu352Val
NM_001173466.2:c.955C>G	NP_001166937.1:p.Leu319Val