Canonical Allele Identifier: CA10326183

Gene: SHANK3

Linked Data

• dbSNP Id: rs745729063
• ExAC: 22:51160219 G / C
• gnomAD v2: 22-51160219-G-C
• gnomAD v4: 22-50721791-G-C
• MyVariant Identifiers: chr22:g.51160219G>C (hg19) ; chr22:g.50721791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721791G>C , CM000684.2:g.50721791G>C	GRCh38
NC_000022.10:g.51160219G>C , CM000684.1:g.51160219G>C	GRCh37
NC_000022.9:g.49507085G>C	NCBI36
NG_008607.2:g.52437G>C
NG_070230.1:g.57575G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3559G>C	ENSP00000489147.2:p.Ala1187Pro
ENST00000414786.7:n.4143G>C
ENST00000445220.7:c.2611G>C	ENSP00000489407.2:p.Ala871Pro
ENST00000664402.2:c.2101G>C	ENSP00000499475.1:p.Ala701Pro
ENST00000673971.2:c.*2557G>C	ENSP00000501192.1:n.*2557G>C
ENST00000445220.6:c.2611G>C	ENSP00000489407.2:p.Ala871Pro
ENST00000262795.6:c.3559G>C	ENSP00000489147.2:p.Ala1187Pro
ENST00000664402.1:c.2101G>C	ENSP00000499475.1:p.Ala701Pro
ENST00000673971.1:c.*2557G>C	ENSP00000501192.1:n.*2557G>C
ENST00000262795.5:c.3955G>C	ENSP00000489147.1:p.Ala1319Pro
ENST00000414786.6:n.4143G>C
ENST00000445220.5:c.3937G>C	ENSP00000489407.1:p.Ala1313Pro