Canonical Allele Identifier: CA385038695

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701881A>C (hg19) ; chr12:g.53308097A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308097A>C , CM000674.2:g.53308097A>C	GRCh38
NC_000012.11:g.53701881A>C , CM000674.1:g.53701881A>C	GRCh37
NC_000012.10:g.51988148A>C	NCBI36
NG_016775.1:g.18532T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.1286T>G MANE Select	ENSP00000209873.4:p.Leu429Arg
ENST00000546562.6:n.2350T>G
ENST00000547238.6:n.1922T>G
ENST00000547520.6:n.1280T>G
ENST00000547757.2:c.335T>G	ENSP00000448020.2:p.Leu112Arg
ENST00000548880.2:n.1736T>G
ENST00000548931.6:c.806T>G	ENSP00000457518.1:p.Leu269Arg
ENST00000549450.6:n.1220T>G
ENST00000552161.6:n.2242T>G
ENST00000672797.1:n.1775T>G
ENST00000672900.1:n.2376T>G
ENST00000209873.8:c.1286T>G	ENSP00000209873.4:p.Leu429Arg
ENST00000394384.7:c.1187T>G	ENSP00000377908.3:p.Leu396Arg
ENST00000548931.5:c.806T>G	ENSP00000457518.1:p.Leu269Arg
ENST00000550033.5:n.541T>G
ENST00000550286.5:c.914T>G	ENSP00000446885.1:p.Leu305Arg
ENST00000552876.5:n.1629T>G
NM_001173466.1:c.1187T>G	NP_001166937.1:p.Leu396Arg
NM_015665.5:c.1286T>G	NP_056480.1:p.Leu429Arg
XM_006719617.2:c.1301T>G	XP_006719680.1:p.Leu434Arg
XM_011538777.1:c.1301T>G	XP_011537079.1:p.Leu434Arg
XM_011538778.1:c.1286T>G	XP_011537080.1:p.Leu429Arg
XM_011538779.1:c.1202T>G	XP_011537081.1:p.Leu401Arg
XM_011538780.1:c.1187T>G	XP_011537082.1:p.Leu396Arg
XM_011538781.1:c.635T>G	XP_011537083.1:p.Leu212Arg
XM_011538778.2:c.1286T>G	XP_011537080.1:p.Leu429Arg
XM_011538780.2:c.1187T>G	XP_011537082.1:p.Leu396Arg
XR_001748875.2:n.1343T>G
NM_015665.6:c.1286T>G MANE Select	NP_056480.1:p.Leu429Arg
NM_001173466.2:c.1187T>G	NP_001166937.1:p.Leu396Arg