Canonical Allele Identifier: CA385035061

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701365G>C (hg19) ; chr12:g.53307581G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307581G>C , CM000674.2:g.53307581G>C	GRCh38
NC_000012.11:g.53701365G>C , CM000674.1:g.53701365G>C	GRCh37
NC_000012.10:g.51987632G>C	NCBI36
NG_016775.1:g.19048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1549C>G MANE Select	ENSP00000209873.4:p.Leu517Val
ENST00000546562.6:n.2613C>G
ENST00000547238.6:n.2185C>G
ENST00000547520.6:n.1665C>G
ENST00000547757.2:c.*467C>G	ENSP00000448020.2:n.*467C>G
ENST00000548931.6:c.984C>G	ENSP00000457518.1:p.Pro328=
ENST00000549450.6:n.1483C>G
ENST00000672797.1:n.2038C>G
ENST00000209873.8:c.1549C>G	ENSP00000209873.4:p.Leu517Val
ENST00000394384.7:c.1450C>G	ENSP00000377908.3:p.Leu484Val
ENST00000548931.5:c.984C>G	ENSP00000457518.1:p.Pro328=
ENST00000550286.5:c.1177C>G	ENSP00000446885.1:p.Leu393Val
ENST00000552876.5:n.1892C>G
NM_001173466.1:c.1450C>G	NP_001166937.1:p.Leu484Val
NM_015665.5:c.1549C>G	NP_056480.1:p.Leu517Val
XM_006719617.2:c.1564C>G	XP_006719680.1:p.Leu522Val
XM_011538777.1:c.1606C>G	XP_011537079.1:p.Leu536Val
XM_011538778.1:c.1591C>G	XP_011537080.1:p.Leu531Val
XM_011538779.1:c.1507C>G	XP_011537081.1:p.Leu503Val
XM_011538780.1:c.1492C>G	XP_011537082.1:p.Leu498Val
XM_011538781.1:c.940C>G	XP_011537083.1:p.Leu314Val
XM_011538778.2:c.1591C>G	XP_011537080.1:p.Leu531Val
XM_011538780.2:c.1492C>G	XP_011537082.1:p.Leu498Val
XR_001748875.2:n.1606C>G
NM_015665.6:c.1549C>G MANE Select	NP_056480.1:p.Leu517Val
NM_001173466.2:c.1450C>G	NP_001166937.1:p.Leu484Val