Canonical Allele Identifier: CA385040608

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702566G>C (hg19) ; chr12:g.53308782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308782G>C , CM000674.2:g.53308782G>C	GRCh38
NC_000012.11:g.53702566G>C , CM000674.1:g.53702566G>C	GRCh37
NC_000012.10:g.51988833G>C	NCBI36
NG_016775.1:g.17847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1030C>G MANE Select	ENSP00000209873.4:p.Leu344Val
ENST00000546393.7:n.1875C>G
ENST00000546562.6:n.2094C>G
ENST00000547238.6:n.1666C>G
ENST00000547520.6:n.1024C>G
ENST00000547757.2:c.79C>G	ENSP00000448020.2:p.Leu27Val
ENST00000548880.2:n.1480C>G
ENST00000548931.6:c.550C>G	ENSP00000457518.1:p.Leu184Val
ENST00000549450.6:n.964C>G
ENST00000552161.6:n.1986C>G
ENST00000672797.1:n.1519C>G
ENST00000672900.1:n.1972C>G
ENST00000209873.8:c.1030C>G	ENSP00000209873.4:p.Leu344Val
ENST00000394384.7:c.931C>G	ENSP00000377908.3:p.Leu311Val
ENST00000547520.5:n.734C>G
ENST00000548931.5:c.550C>G	ENSP00000457518.1:p.Leu184Val
ENST00000550033.5:n.285C>G
ENST00000550286.5:c.658C>G	ENSP00000446885.1:p.Leu220Val
ENST00000552876.5:n.1373C>G
NM_001173466.1:c.931C>G	NP_001166937.1:p.Leu311Val
NM_015665.5:c.1030C>G	NP_056480.1:p.Leu344Val
XM_006719617.2:c.1045C>G	XP_006719680.1:p.Leu349Val
XM_006719619.2:c.*40C>G	XP_006719682.1:n.*40C>G
XM_011538777.1:c.1045C>G	XP_011537079.1:p.Leu349Val
XM_011538778.1:c.1030C>G	XP_011537080.1:p.Leu344Val
XM_011538779.1:c.946C>G	XP_011537081.1:p.Leu316Val
XM_011538780.1:c.931C>G	XP_011537082.1:p.Leu311Val
XM_011538781.1:c.379C>G	XP_011537083.1:p.Leu127Val
XM_011538778.2:c.1030C>G	XP_011537080.1:p.Leu344Val
XM_011538780.2:c.931C>G	XP_011537082.1:p.Leu311Val
XR_001748875.2:n.1087C>G
NM_015665.6:c.1030C>G MANE Select	NP_056480.1:p.Leu344Val
NM_001173466.2:c.931C>G	NP_001166937.1:p.Leu311Val