Canonical Allele Identifier: CA6599035

Gene: AAAS

Linked Data

• dbSNP Id: rs150173795
• ExAC: 12:53702766 G / C
• MyVariant Identifiers: chr12:g.53702766G>C (hg19) ; chr12:g.53308982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308982G>C , CM000674.2:g.53308982G>C	GRCh38
NC_000012.11:g.53702766G>C , CM000674.1:g.53702766G>C	GRCh37
NC_000012.10:g.51989033G>C	NCBI36
NG_016775.1:g.17647C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000209873.9:c.974C>G MANE Select	ENSP00000209873.4:p.Pro325Arg
ENST00000546393.7:n.1819C>G
ENST00000546562.6:n.2038C>G
ENST00000547238.6:n.1610C>G
ENST00000547520.6:n.968C>G
ENST00000547757.2:c.23C>G	ENSP00000448020.2:p.Pro8Arg
ENST00000548880.2:n.1424C>G
ENST00000548931.6:c.494C>G	ENSP00000457518.1:p.Pro165Arg
ENST00000549450.6:n.908C>G
ENST00000552161.6:n.1930C>G
ENST00000672797.1:n.1427C>G
ENST00000672900.1:n.1772C>G
ENST00000209873.8:c.974C>G	ENSP00000209873.4:p.Pro325Arg
ENST00000394384.7:c.875C>G	ENSP00000377908.3:p.Pro292Arg
ENST00000546572.1:n.562C>G
ENST00000547520.5:n.678C>G
ENST00000548931.5:c.494C>G	ENSP00000457518.1:p.Pro165Arg
ENST00000550033.5:n.229C>G
ENST00000550286.5:c.602C>G	ENSP00000446885.1:p.Pro201Arg
ENST00000552876.5:n.1317C>G
NM_001173466.1:c.875C>G	NP_001166937.1:p.Pro292Arg
NM_015665.5:c.974C>G	NP_056480.1:p.Pro325Arg
XM_006719617.2:c.989C>G	XP_006719680.1:p.Pro330Arg
XM_006719619.2:c.989C>G	XP_006719682.1:p.Pro330Arg
XM_011538777.1:c.989C>G	XP_011537079.1:p.Pro330Arg
XM_011538778.1:c.974C>G	XP_011537080.1:p.Pro325Arg
XM_011538779.1:c.890C>G	XP_011537081.1:p.Pro297Arg
XM_011538780.1:c.875C>G	XP_011537082.1:p.Pro292Arg
XM_011538781.1:c.323C>G	XP_011537083.1:p.Pro108Arg
XM_011538778.2:c.974C>G	XP_011537080.1:p.Pro325Arg
XM_011538780.2:c.875C>G	XP_011537082.1:p.Pro292Arg
XR_001748875.2:n.995C>G
NM_015665.6:c.974C>G MANE Select	NP_056480.1:p.Pro325Arg
NM_001173466.2:c.875C>G	NP_001166937.1:p.Pro292Arg