Canonical Allele Identifier: CA6599265

Gene: AAAS

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53315426A>G , CM000674.2:g.53315426A>G	GRCh38
NC_000012.11:g.53709210A>G , CM000674.1:g.53709210A>G	GRCh37
NC_000012.10:g.51995477A>G	NCBI36
NG_016775.1:g.11203T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015665.6:c.308T>C MANE Select	NP_056480.1:p.Val103Ala
ENST00000209873.9:c.308T>C MANE Select	ENSP00000209873.4:p.Val103Ala
NM_001173466.1:c.308T>C	NP_001166937.1:p.Val103Ala
NM_001173466.2:c.308T>C	NP_001166937.1:p.Val103Ala
NM_015665.5:c.308T>C	NP_056480.1:p.Val103Ala
ENST00000209873.8:c.308T>C	ENSP00000209873.4:p.Val103Ala
ENST00000394384.7:c.308T>C	ENSP00000377908.3:p.Val103Ala
ENST00000546393.7:n.406T>C
ENST00000546562.5:n.625T>C
ENST00000546562.6:n.625T>C
ENST00000547238.5:n.701T>C
ENST00000547238.6:n.750T>C
ENST00000547520.6:n.302T>C
ENST00000547757.1:c.308T>C	ENSP00000448020.1:p.Val103Ala
ENST00000547757.2:c.-545T>C	ENSP00000448020.2:n.-545T>C
ENST00000547761.6:n.292-286T>C
ENST00000548258.5:n.336T>C
ENST00000548880.2:n.758T>C
ENST00000549450.5:n.302T>C
ENST00000549450.6:n.242T>C
ENST00000549821.5:n.306T>C
ENST00000549983.5:n.331T>C
ENST00000550286.5:c.28-286T>C	ENSP00000446885.1:n.28-286T>C
ENST00000551724.5:n.358T>C
ENST00000552161.5:n.403T>C
ENST00000552161.6:n.1070T>C
ENST00000552876.5:n.750T>C
ENST00000672797.1:n.761T>C
ENST00000672900.1:n.359T>C
XM_006719617.2:c.323T>C	XP_006719680.1:p.Val108Ala
XM_006719619.2:c.323T>C	XP_006719682.1:p.Val108Ala
XM_011538777.1:c.323T>C	XP_011537079.1:p.Val108Ala
XM_011538778.1:c.308T>C	XP_011537080.1:p.Val103Ala
XM_011538778.2:c.308T>C	XP_011537080.1:p.Val103Ala
XM_011538779.1:c.323T>C	XP_011537081.1:p.Val108Ala
XM_011538780.1:c.308T>C	XP_011537082.1:p.Val103Ala
XM_011538780.2:c.308T>C	XP_011537082.1:p.Val103Ala
XR_001748875.2:n.428T>C