Canonical Allele Identifier: CA385040147

Gene: AAAS

Linked Data

• MyVariant Identifiers: chr12:g.53702509C>G (hg19) ; chr12:g.53308725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308725C>G , CM000674.2:g.53308725C>G	GRCh38
NC_000012.11:g.53702509C>G , CM000674.1:g.53702509C>G	GRCh37
NC_000012.10:g.51988776C>G	NCBI36
NG_016775.1:g.17904G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1087G>C MANE Select	ENSP00000209873.4:p.Gly363Arg
ENST00000546562.6:n.2151G>C
ENST00000547238.6:n.1723G>C
ENST00000547520.6:n.1081G>C
ENST00000547757.2:c.136G>C	ENSP00000448020.2:p.Gly46Arg
ENST00000548880.2:n.1537G>C
ENST00000548931.6:c.607G>C	ENSP00000457518.1:p.Gly203Arg
ENST00000549450.6:n.1021G>C
ENST00000552161.6:n.2043G>C
ENST00000672797.1:n.1576G>C
ENST00000672900.1:n.2029G>C
ENST00000209873.8:c.1087G>C	ENSP00000209873.4:p.Gly363Arg
ENST00000394384.7:c.988G>C	ENSP00000377908.3:p.Gly330Arg
ENST00000548931.5:c.607G>C	ENSP00000457518.1:p.Gly203Arg
ENST00000550033.5:n.342G>C
ENST00000550286.5:c.715G>C	ENSP00000446885.1:p.Gly239Arg
ENST00000552876.5:n.1430G>C
NM_001173466.1:c.988G>C	NP_001166937.1:p.Gly330Arg
NM_015665.5:c.1087G>C	NP_056480.1:p.Gly363Arg
XM_006719617.2:c.1102G>C	XP_006719680.1:p.Gly368Arg
XM_011538777.1:c.1102G>C	XP_011537079.1:p.Gly368Arg
XM_011538778.1:c.1087G>C	XP_011537080.1:p.Gly363Arg
XM_011538779.1:c.1003G>C	XP_011537081.1:p.Gly335Arg
XM_011538780.1:c.988G>C	XP_011537082.1:p.Gly330Arg
XM_011538781.1:c.436G>C	XP_011537083.1:p.Gly146Arg
XM_011538778.2:c.1087G>C	XP_011537080.1:p.Gly363Arg
XM_011538780.2:c.988G>C	XP_011537082.1:p.Gly330Arg
XR_001748875.2:n.1144G>C
NM_015665.6:c.1087G>C MANE Select	NP_056480.1:p.Gly363Arg
NM_001173466.2:c.988G>C	NP_001166937.1:p.Gly330Arg