Canonical Allele Identifier: CA515254943

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146798991
• gnomAD v4: 22-50697599-G-C
• MyVariant Identifiers: chr22:g.51136027G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697599G>C , CM000684.2:g.50697599G>C	GRCh38
NC_000022.10:g.51136027G>C , CM000684.1:g.51136027G>C	GRCh37
NC_000022.9:g.49482893G>C	NCBI36
NG_008607.2:g.28245G>C
NG_070230.1:g.33464G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.983G>C	ENSP00000489147.2:p.Arg328Pro
ENST00000414786.7:n.1567G>C
ENST00000445220.7:c.35G>C	ENSP00000489407.2:p.Arg12Pro
ENST00000673971.2:c.1340G>C	ENSP00000501192.1:p.Arg447Pro
ENST00000445220.6:c.35G>C	ENSP00000489407.2:p.Arg12Pro
ENST00000262795.6:c.983G>C	ENSP00000489147.2:p.Arg328Pro
ENST00000673971.1:c.1340G>C	ENSP00000501192.1:p.Arg447Pro
ENST00000673995.1:c.36G>C
ENST00000262795.5:c.1379G>C	ENSP00000489147.1:p.Arg460Pro
ENST00000414786.6:n.1567G>C
ENST00000445220.5:c.1361G>C	ENSP00000489407.1:p.Arg454Pro