Canonical Allele Identifier: CA515254945

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697600-G-A
• MyVariant Identifiers: chr22:g.51136028G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697600G>A , CM000684.2:g.50697600G>A	GRCh38
NC_000022.10:g.51136028G>A , CM000684.1:g.51136028G>A	GRCh37
NC_000022.9:g.49482894G>A	NCBI36
NG_008607.2:g.28246G>A
NG_070230.1:g.33465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.984G>A	ENSP00000489147.2:p.Arg328=
ENST00000414786.7:n.1568G>A
ENST00000445220.7:c.36G>A	ENSP00000489407.2:p.Arg12=
ENST00000673971.2:c.1341G>A	ENSP00000501192.1:p.Arg447=
ENST00000445220.6:c.36G>A	ENSP00000489407.2:p.Arg12=
ENST00000262795.6:c.984G>A	ENSP00000489147.2:p.Arg328=
ENST00000673971.1:c.1341G>A	ENSP00000501192.1:p.Arg447=
ENST00000673995.1:c.37G>A
ENST00000262795.5:c.1380G>A	ENSP00000489147.1:p.Arg460=
ENST00000414786.6:n.1568G>A
ENST00000445220.5:c.1362G>A	ENSP00000489407.1:p.Arg454=