Canonical Allele Identifier: CA385035185

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53701381A>G (hg19) ; chr12:g.53307597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53307597A>G , CM000674.2:g.53307597A>G	GRCh38
NC_000012.11:g.53701381A>G , CM000674.1:g.53701381A>G	GRCh37
NC_000012.10:g.51987648A>G	NCBI36
NG_016775.1:g.19032T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1533T>C MANE Select	ENSP00000209873.4:p.Ser511=
ENST00000546562.6:n.2597T>C
ENST00000547238.6:n.2169T>C
ENST00000547520.6:n.1649T>C
ENST00000547757.2:c.*451T>C	ENSP00000448020.2:n.*451T>C
ENST00000548931.6:c.968T>C	ENSP00000457518.1:p.Leu323Pro
ENST00000549450.6:n.1467T>C
ENST00000672797.1:n.2022T>C
ENST00000209873.8:c.1533T>C	ENSP00000209873.4:p.Ser511=
ENST00000394384.7:c.1434T>C	ENSP00000377908.3:p.Ser478=
ENST00000548931.5:c.968T>C	ENSP00000457518.1:p.Leu323Pro
ENST00000550286.5:c.1161T>C	ENSP00000446885.1:p.Ser387=
ENST00000552876.5:n.1876T>C
NM_001173466.1:c.1434T>C	NP_001166937.1:p.Ser478=
NM_015665.5:c.1533T>C	NP_056480.1:p.Ser511=
XM_006719617.2:c.1548T>C	XP_006719680.1:p.Ser516=
XM_011538777.1:c.1590T>C	XP_011537079.1:p.Ser530=
XM_011538778.1:c.1575T>C	XP_011537080.1:p.Ser525=
XM_011538779.1:c.1491T>C	XP_011537081.1:p.Ser497=
XM_011538780.1:c.1476T>C	XP_011537082.1:p.Ser492=
XM_011538781.1:c.924T>C	XP_011537083.1:p.Ser308=
XM_011538778.2:c.1575T>C	XP_011537080.1:p.Ser525=
XM_011538780.2:c.1476T>C	XP_011537082.1:p.Ser492=
XR_001748875.2:n.1590T>C
NM_015665.6:c.1533T>C MANE Select	NP_056480.1:p.Ser511=
NM_001173466.2:c.1434T>C	NP_001166937.1:p.Ser478=