Canonical Allele Identifier: CA479918415

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702528C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308744C>G , CM000674.2:g.53308744C>G	GRCh38
NC_000012.11:g.53702528C>G , CM000674.1:g.53702528C>G	GRCh37
NC_000012.10:g.51988795C>G	NCBI36
NG_016775.1:g.17885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1068G>C MANE Select	ENSP00000209873.4:p.Leu356=
ENST00000546562.6:n.2132G>C
ENST00000547238.6:n.1704G>C
ENST00000547520.6:n.1062G>C
ENST00000547757.2:c.117G>C	ENSP00000448020.2:p.Leu39=
ENST00000548880.2:n.1518G>C
ENST00000548931.6:c.588G>C	ENSP00000457518.1:p.Leu196=
ENST00000549450.6:n.1002G>C
ENST00000552161.6:n.2024G>C
ENST00000672797.1:n.1557G>C
ENST00000672900.1:n.2010G>C
ENST00000209873.8:c.1068G>C	ENSP00000209873.4:p.Leu356=
ENST00000394384.7:c.969G>C	ENSP00000377908.3:p.Leu323=
ENST00000548931.5:c.588G>C	ENSP00000457518.1:p.Leu196=
ENST00000550033.5:n.323G>C
ENST00000550286.5:c.696G>C	ENSP00000446885.1:p.Leu232=
ENST00000552876.5:n.1411G>C
NM_001173466.1:c.969G>C	NP_001166937.1:p.Leu323=
NM_015665.5:c.1068G>C	NP_056480.1:p.Leu356=
XM_006719617.2:c.1083G>C	XP_006719680.1:p.Leu361=
XM_011538777.1:c.1083G>C	XP_011537079.1:p.Leu361=
XM_011538778.1:c.1068G>C	XP_011537080.1:p.Leu356=
XM_011538779.1:c.984G>C	XP_011537081.1:p.Leu328=
XM_011538780.1:c.969G>C	XP_011537082.1:p.Leu323=
XM_011538781.1:c.417G>C	XP_011537083.1:p.Leu139=
XM_011538778.2:c.1068G>C	XP_011537080.1:p.Leu356=
XM_011538780.2:c.969G>C	XP_011537082.1:p.Leu323=
XR_001748875.2:n.1125G>C
NM_015665.6:c.1068G>C MANE Select	NP_056480.1:p.Leu356=
NM_001173466.2:c.969G>C	NP_001166937.1:p.Leu323=