Canonical Allele Identifier: CA515263972

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083294123
• gnomAD v4: 22-50721937-C-T
• MyVariant Identifiers: chr22:g.51160365C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721937C>T , CM000684.2:g.50721937C>T	GRCh38
NC_000022.10:g.51160365C>T , CM000684.1:g.51160365C>T	GRCh37
NC_000022.9:g.49507231C>T	NCBI36
NG_008607.2:g.52583C>T
NG_070230.1:g.57721C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3705C>T	ENSP00000489147.2:p.Pro1235=
ENST00000414786.7:n.4289C>T
ENST00000445220.7:c.2757C>T	ENSP00000489407.2:p.Pro919=
ENST00000664402.2:c.2247C>T	ENSP00000499475.1:p.Pro749=
ENST00000673971.2:c.*2703C>T	ENSP00000501192.1:n.*2703C>T
ENST00000445220.6:c.2757C>T	ENSP00000489407.2:p.Pro919=
ENST00000262795.6:c.3705C>T	ENSP00000489147.2:p.Pro1235=
ENST00000664402.1:c.2247C>T	ENSP00000499475.1:p.Pro749=
ENST00000673971.1:c.*2703C>T	ENSP00000501192.1:n.*2703C>T
ENST00000262795.5:c.4101C>T	ENSP00000489147.1:p.Pro1367=
ENST00000414786.6:n.4289C>T
ENST00000445220.5:c.4083C>T	ENSP00000489407.1:p.Pro1361=