Canonical Allele Identifier: CA385040349

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702533A>G (hg19) ; chr12:g.53308749A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308749A>G , CM000674.2:g.53308749A>G	GRCh38
NC_000012.11:g.53702533A>G , CM000674.1:g.53702533A>G	GRCh37
NC_000012.10:g.51988800A>G	NCBI36
NG_016775.1:g.17880T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1063T>C MANE Select	ENSP00000209873.4:p.Ser355Pro
ENST00000546562.6:n.2127T>C
ENST00000547238.6:n.1699T>C
ENST00000547520.6:n.1057T>C
ENST00000547757.2:c.112T>C	ENSP00000448020.2:p.Ser38Pro
ENST00000548880.2:n.1513T>C
ENST00000548931.6:c.583T>C	ENSP00000457518.1:p.Ser195Pro
ENST00000549450.6:n.997T>C
ENST00000552161.6:n.2019T>C
ENST00000672797.1:n.1552T>C
ENST00000672900.1:n.2005T>C
ENST00000209873.8:c.1063T>C	ENSP00000209873.4:p.Ser355Pro
ENST00000394384.7:c.964T>C	ENSP00000377908.3:p.Ser322Pro
ENST00000547520.5:n.767T>C
ENST00000548931.5:c.583T>C	ENSP00000457518.1:p.Ser195Pro
ENST00000550033.5:n.318T>C
ENST00000550286.5:c.691T>C	ENSP00000446885.1:p.Ser231Pro
ENST00000552876.5:n.1406T>C
NM_001173466.1:c.964T>C	NP_001166937.1:p.Ser322Pro
NM_015665.5:c.1063T>C	NP_056480.1:p.Ser355Pro
XM_006719617.2:c.1078T>C	XP_006719680.1:p.Ser360Pro
XM_011538777.1:c.1078T>C	XP_011537079.1:p.Ser360Pro
XM_011538778.1:c.1063T>C	XP_011537080.1:p.Ser355Pro
XM_011538779.1:c.979T>C	XP_011537081.1:p.Ser327Pro
XM_011538780.1:c.964T>C	XP_011537082.1:p.Ser322Pro
XM_011538781.1:c.412T>C	XP_011537083.1:p.Ser138Pro
XM_011538778.2:c.1063T>C	XP_011537080.1:p.Ser355Pro
XM_011538780.2:c.964T>C	XP_011537082.1:p.Ser322Pro
XR_001748875.2:n.1120T>C
NM_015665.6:c.1063T>C MANE Select	NP_056480.1:p.Ser355Pro
NM_001173466.2:c.964T>C	NP_001166937.1:p.Ser322Pro