Canonical Allele Identifier: CA515261794

Gene: SHANK3

Linked Data

• dbSNP Id: rs1274956192
• gnomAD v4: 22-50721316-C-T
• MyVariant Identifiers: chr22:g.51159744C>T (hg19) ; chr22:g.50721316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721316C>T , CM000684.2:g.50721316C>T	GRCh38
NC_000022.10:g.51159744C>T , CM000684.1:g.51159744C>T	GRCh37
NC_000022.9:g.49506610C>T	NCBI36
NG_008607.2:g.51962C>T
NG_070230.1:g.57100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3084C>T	ENSP00000489147.2:p.Phe1028=
ENST00000414786.7:n.3668C>T
ENST00000445220.7:c.2136C>T	ENSP00000489407.2:p.Phe712=
ENST00000664402.2:c.1626C>T	ENSP00000499475.1:p.Phe542=
ENST00000673971.2:c.*2082C>T	ENSP00000501192.1:n.*2082C>T
ENST00000445220.6:c.2136C>T	ENSP00000489407.2:p.Phe712=
ENST00000262795.6:c.3084C>T	ENSP00000489147.2:p.Phe1028=
ENST00000664402.1:c.1626C>T	ENSP00000499475.1:p.Phe542=
ENST00000673971.1:c.*2082C>T	ENSP00000501192.1:n.*2082C>T
ENST00000262795.5:c.3480C>T	ENSP00000489147.1:p.Phe1160=
ENST00000414786.6:n.3668C>T
ENST00000445220.5:c.3462C>T	ENSP00000489407.1:p.Phe1154=