Canonical Allele Identifier: CA515255112

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697658-G-C
• MyVariant Identifiers: chr22:g.51136086G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697658G>C , CM000684.2:g.50697658G>C	GRCh38
NC_000022.10:g.51136086G>C , CM000684.1:g.51136086G>C	GRCh37
NC_000022.9:g.49482952G>C	NCBI36
NG_008607.2:g.28304G>C
NG_070230.1:g.33523G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1042G>C	ENSP00000489147.2:p.Ala348Pro
ENST00000414786.7:n.1626G>C
ENST00000445220.7:c.94G>C	ENSP00000489407.2:p.Ala32Pro
ENST00000673971.2:c.1399G>C	ENSP00000501192.1:p.Ala467Pro
ENST00000445220.6:c.94G>C	ENSP00000489407.2:p.Ala32Pro
ENST00000262795.6:c.1042G>C	ENSP00000489147.2:p.Ala348Pro
ENST00000673971.1:c.1399G>C	ENSP00000501192.1:p.Ala467Pro
ENST00000673995.1:c.95G>C
ENST00000262795.5:c.1438G>C	ENSP00000489147.1:p.Ala480Pro
ENST00000414786.6:n.1626G>C
ENST00000445220.5:c.1420G>C	ENSP00000489407.1:p.Ala474Pro