Canonical Allele Identifier: CA385040768

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702586C>A (hg19) ; chr12:g.53308802C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308802C>A , CM000674.2:g.53308802C>A	GRCh38
NC_000012.11:g.53702586C>A , CM000674.1:g.53702586C>A	GRCh37
NC_000012.10:g.51988853C>A	NCBI36
NG_016775.1:g.17827G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1010G>T MANE Select	ENSP00000209873.4:p.Ser337Ile
ENST00000546393.7:n.1855G>T
ENST00000546562.6:n.2074G>T
ENST00000547238.6:n.1646G>T
ENST00000547520.6:n.1004G>T
ENST00000547757.2:c.59G>T	ENSP00000448020.2:p.Ser20Ile
ENST00000548880.2:n.1460G>T
ENST00000548931.6:c.530G>T	ENSP00000457518.1:p.Ser177Ile
ENST00000549450.6:n.944G>T
ENST00000552161.6:n.1966G>T
ENST00000672797.1:n.1499G>T
ENST00000672900.1:n.1952G>T
ENST00000209873.8:c.1010G>T	ENSP00000209873.4:p.Ser337Ile
ENST00000394384.7:c.911G>T	ENSP00000377908.3:p.Ser304Ile
ENST00000547520.5:n.714G>T
ENST00000548931.5:c.530G>T	ENSP00000457518.1:p.Ser177Ile
ENST00000550033.5:n.265G>T
ENST00000550286.5:c.638G>T	ENSP00000446885.1:p.Ser213Ile
ENST00000552876.5:n.1353G>T
NM_001173466.1:c.911G>T	NP_001166937.1:p.Ser304Ile
NM_015665.5:c.1010G>T	NP_056480.1:p.Ser337Ile
XM_006719617.2:c.1025G>T	XP_006719680.1:p.Ser342Ile
XM_006719619.2:c.*20G>T	XP_006719682.1:n.*20G>T
XM_011538777.1:c.1025G>T	XP_011537079.1:p.Ser342Ile
XM_011538778.1:c.1010G>T	XP_011537080.1:p.Ser337Ile
XM_011538779.1:c.926G>T	XP_011537081.1:p.Ser309Ile
XM_011538780.1:c.911G>T	XP_011537082.1:p.Ser304Ile
XM_011538781.1:c.359G>T	XP_011537083.1:p.Ser120Ile
XM_011538778.2:c.1010G>T	XP_011537080.1:p.Ser337Ile
XM_011538780.2:c.911G>T	XP_011537082.1:p.Ser304Ile
XR_001748875.2:n.1067G>T
NM_015665.6:c.1010G>T MANE Select	NP_056480.1:p.Ser337Ile
NM_001173466.2:c.911G>T	NP_001166937.1:p.Ser304Ile