Canonical Allele Identifier: CA6598807

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307613G>C , CM000674.2:g.53307613G>C	GRCh38
NC_000012.11:g.53701397G>C , CM000674.1:g.53701397G>C	GRCh37
NC_000012.10:g.51987664G>C	NCBI36
NG_016775.1:g.19016C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.1517C>G MANE Select	NP_056480.1:p.Ala506Gly
ENST00000209873.9:c.1517C>G MANE Select	ENSP00000209873.4:p.Ala506Gly
NM_001173466.1:c.1418C>G	NP_001166937.1:p.Ala473Gly
NM_001173466.2:c.1418C>G	NP_001166937.1:p.Ala473Gly
NM_015665.5:c.1517C>G	NP_056480.1:p.Ala506Gly
ENST00000209873.8:c.1517C>G	ENSP00000209873.4:p.Ala506Gly
ENST00000394384.7:c.1418C>G	ENSP00000377908.3:p.Ala473Gly
ENST00000546562.6:n.2581C>G
ENST00000547238.6:n.2153C>G
ENST00000547520.6:n.1633C>G
ENST00000547757.2:c.*435C>G	ENSP00000448020.2:n.*435C>G
ENST00000548931.5:c.952C>G	ENSP00000457518.1:p.Leu318Val
ENST00000548931.6:c.952C>G	ENSP00000457518.1:p.Leu318Val
ENST00000549450.6:n.1451C>G
ENST00000550286.5:c.1145C>G	ENSP00000446885.1:p.Ala382Gly
ENST00000552876.5:n.1860C>G
ENST00000672797.1:n.2006C>G
XM_006719617.2:c.1532C>G	XP_006719680.1:p.Ala511Gly
XM_011538777.1:c.1574C>G	XP_011537079.1:p.Ala525Gly
XM_011538778.1:c.1559C>G	XP_011537080.1:p.Ala520Gly
XM_011538778.2:c.1559C>G	XP_011537080.1:p.Ala520Gly
XM_011538779.1:c.1475C>G	XP_011537081.1:p.Ala492Gly
XM_011538780.1:c.1460C>G	XP_011537082.1:p.Ala487Gly
XM_011538780.2:c.1460C>G	XP_011537082.1:p.Ala487Gly
XM_011538781.1:c.908C>G	XP_011537083.1:p.Ala303Gly
XR_001748875.2:n.1574C>G