Canonical Allele Identifier: CA515255116

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083091650
• gnomAD v3: 22-50697659-C-T
• gnomAD v4: 22-50697659-C-T
• MyVariant Identifiers: chr22:g.51136087C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697659C>T , CM000684.2:g.50697659C>T	GRCh38
NC_000022.10:g.51136087C>T , CM000684.1:g.51136087C>T	GRCh37
NC_000022.9:g.49482953C>T	NCBI36
NG_008607.2:g.28305C>T
NG_070230.1:g.33524C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1043C>T	ENSP00000489147.2:p.Ala348Val
ENST00000414786.7:n.1627C>T
ENST00000445220.7:c.95C>T	ENSP00000489407.2:p.Ala32Val
ENST00000673971.2:c.1400C>T	ENSP00000501192.1:p.Ala467Val
ENST00000445220.6:c.95C>T	ENSP00000489407.2:p.Ala32Val
ENST00000262795.6:c.1043C>T	ENSP00000489147.2:p.Ala348Val
ENST00000673971.1:c.1400C>T	ENSP00000501192.1:p.Ala467Val
ENST00000673995.1:c.96C>T
ENST00000262795.5:c.1439C>T	ENSP00000489147.1:p.Ala480Val
ENST00000414786.6:n.1627C>T
ENST00000445220.5:c.1421C>T	ENSP00000489407.1:p.Ala474Val