Canonical Allele Identifier: CA515263900

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721913-T-C
• MyVariant Identifiers: chr22:g.51160341T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721913T>C , CM000684.2:g.50721913T>C	GRCh38
NC_000022.10:g.51160341T>C , CM000684.1:g.51160341T>C	GRCh37
NC_000022.9:g.49507207T>C	NCBI36
NG_008607.2:g.52559T>C
NG_070230.1:g.57697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3681T>C	ENSP00000489147.2:p.Ala1227=
ENST00000414786.7:n.4265T>C
ENST00000445220.7:c.2733T>C	ENSP00000489407.2:p.Ala911=
ENST00000664402.2:c.2223T>C	ENSP00000499475.1:p.Ala741=
ENST00000673971.2:c.*2679T>C	ENSP00000501192.1:n.*2679T>C
ENST00000445220.6:c.2733T>C	ENSP00000489407.2:p.Ala911=
ENST00000262795.6:c.3681T>C	ENSP00000489147.2:p.Ala1227=
ENST00000664402.1:c.2223T>C	ENSP00000499475.1:p.Ala741=
ENST00000673971.1:c.*2679T>C	ENSP00000501192.1:n.*2679T>C
ENST00000262795.5:c.4077T>C	ENSP00000489147.1:p.Ala1359=
ENST00000414786.6:n.4265T>C
ENST00000445220.5:c.4059T>C	ENSP00000489407.1:p.Ala1353=