Canonical Allele Identifier: CA479918579

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308996-A-G
• MyVariant Identifiers: chr12:g.53702780A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308996A>G , CM000674.2:g.53308996A>G	GRCh38
NC_000012.11:g.53702780A>G , CM000674.1:g.53702780A>G	GRCh37
NC_000012.10:g.51989047A>G	NCBI36
NG_016775.1:g.17633T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.960T>C MANE Select	ENSP00000209873.4:p.Thr320=
ENST00000546393.7:n.1805T>C
ENST00000546562.6:n.2024T>C
ENST00000547238.6:n.1596T>C
ENST00000547520.6:n.954T>C
ENST00000547757.2:c.9T>C	ENSP00000448020.2:p.Thr3=
ENST00000548880.2:n.1410T>C
ENST00000548931.6:c.480T>C	ENSP00000457518.1:p.Thr160=
ENST00000549450.6:n.894T>C
ENST00000552161.6:n.1916T>C
ENST00000672797.1:n.1413T>C
ENST00000672900.1:n.1758T>C
ENST00000209873.8:c.960T>C	ENSP00000209873.4:p.Thr320=
ENST00000394384.7:c.861T>C	ENSP00000377908.3:p.Thr287=
ENST00000546572.1:n.548T>C
ENST00000547520.5:n.664T>C
ENST00000548931.5:c.480T>C	ENSP00000457518.1:p.Thr160=
ENST00000550033.5:n.215T>C
ENST00000550286.5:c.588T>C	ENSP00000446885.1:p.Thr196=
ENST00000552876.5:n.1303T>C
NM_001173466.1:c.861T>C	NP_001166937.1:p.Thr287=
NM_015665.5:c.960T>C	NP_056480.1:p.Thr320=
XM_006719617.2:c.975T>C	XP_006719680.1:p.Thr325=
XM_006719619.2:c.975T>C	XP_006719682.1:p.Thr325=
XM_011538777.1:c.975T>C	XP_011537079.1:p.Thr325=
XM_011538778.1:c.960T>C	XP_011537080.1:p.Thr320=
XM_011538779.1:c.876T>C	XP_011537081.1:p.Thr292=
XM_011538780.1:c.861T>C	XP_011537082.1:p.Thr287=
XM_011538781.1:c.309T>C	XP_011537083.1:p.Thr103=
XM_011538778.2:c.960T>C	XP_011537080.1:p.Thr320=
XM_011538780.2:c.861T>C	XP_011537082.1:p.Thr287=
XR_001748875.2:n.981T>C
NM_015665.6:c.960T>C MANE Select	NP_056480.1:p.Thr320=
NM_001173466.2:c.861T>C	NP_001166937.1:p.Thr287=