Canonical Allele Identifier: CA6599390

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53321465T>C , CM000674.2:g.53321465T>C	GRCh38
NC_000012.11:g.53715249T>C , CM000674.1:g.53715249T>C	GRCh37
NC_000012.10:g.52001516T>C	NCBI36
NG_016775.1:g.5164A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.1A>G MANE Select	NP_056480.1:p.Met1Val
ENST00000209873.9:c.1A>G MANE Select	ENSP00000209873.4:p.Met1Val
NM_001173466.1:c.1A>G	NP_001166937.1:p.Met1Val
NM_001173466.2:c.1A>G	NP_001166937.1:p.Met1Val
NM_015665.5:c.1A>G	NP_056480.1:p.Met1Val
ENST00000209873.8:c.1A>G	ENSP00000209873.4:p.Met1Val
ENST00000394384.7:c.1A>G	ENSP00000377908.3:p.Met1Val
ENST00000546393.7:n.99A>G
ENST00000546562.5:n.140+6A>G
ENST00000546562.6:n.140+6A>G
ENST00000547757.1:c.1A>G	ENSP00000448020.1:p.Met1Val
ENST00000547761.6:n.107+412A>G
ENST00000548258.5:n.152-773A>G
ENST00000548880.1:n.96A>G
ENST00000548880.2:n.151A>G
ENST00000549821.5:n.121+412A>G
ENST00000549983.5:n.146+6A>G
ENST00000550286.5:c.-157-773A>G	ENSP00000446885.1:n.-157-773A>G
ENST00000551724.5:n.174-773A>G
ENST00000552161.5:n.96A>G
XM_011538778.1:c.1A>G	XP_011537080.1:p.Met1Val
XM_011538778.2:c.1A>G	XP_011537080.1:p.Met1Val
XM_011538780.1:c.1A>G	XP_011537082.1:p.Met1Val
XM_011538780.2:c.1A>G	XP_011537082.1:p.Met1Val
XR_001748875.2:n.121A>G