Canonical Allele Identifier: CA385040498

Gene: AAAS

Linked Data

• gnomAD v4: 12-53308767-C-T
• MyVariant Identifiers: chr12:g.53702551C>T (hg19) ; chr12:g.53308767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53308767C>T , CM000674.2:g.53308767C>T	GRCh38
NC_000012.11:g.53702551C>T , CM000674.1:g.53702551C>T	GRCh37
NC_000012.10:g.51988818C>T	NCBI36
NG_016775.1:g.17862G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209873.9:c.1045G>A MANE Select	ENSP00000209873.4:p.Gly349Arg
ENST00000546562.6:n.2109G>A
ENST00000547238.6:n.1681G>A
ENST00000547520.6:n.1039G>A
ENST00000547757.2:c.94G>A	ENSP00000448020.2:p.Gly32Arg
ENST00000548880.2:n.1495G>A
ENST00000548931.6:c.565G>A	ENSP00000457518.1:p.Gly189Arg
ENST00000549450.6:n.979G>A
ENST00000552161.6:n.2001G>A
ENST00000672797.1:n.1534G>A
ENST00000672900.1:n.1987G>A
ENST00000209873.8:c.1045G>A	ENSP00000209873.4:p.Gly349Arg
ENST00000394384.7:c.946G>A	ENSP00000377908.3:p.Gly316Arg
ENST00000547520.5:n.749G>A
ENST00000548931.5:c.565G>A	ENSP00000457518.1:p.Gly189Arg
ENST00000550033.5:n.300G>A
ENST00000550286.5:c.673G>A	ENSP00000446885.1:p.Gly225Arg
ENST00000552876.5:n.1388G>A
NM_001173466.1:c.946G>A	NP_001166937.1:p.Gly316Arg
NM_015665.5:c.1045G>A	NP_056480.1:p.Gly349Arg
XM_006719617.2:c.1060G>A	XP_006719680.1:p.Gly354Arg
XM_006719619.2:c.*55G>A	XP_006719682.1:n.*55G>A
XM_011538777.1:c.1060G>A	XP_011537079.1:p.Gly354Arg
XM_011538778.1:c.1045G>A	XP_011537080.1:p.Gly349Arg
XM_011538779.1:c.961G>A	XP_011537081.1:p.Gly321Arg
XM_011538780.1:c.946G>A	XP_011537082.1:p.Gly316Arg
XM_011538781.1:c.394G>A	XP_011537083.1:p.Gly132Arg
XM_011538778.2:c.1045G>A	XP_011537080.1:p.Gly349Arg
XM_011538780.2:c.946G>A	XP_011537082.1:p.Gly316Arg
XR_001748875.2:n.1102G>A
NM_015665.6:c.1045G>A MANE Select	NP_056480.1:p.Gly349Arg
NM_001173466.2:c.946G>A	NP_001166937.1:p.Gly316Arg