Canonical Allele Identifier: CA515263544

Gene: SHANK3

Linked Data

• dbSNP Id: rs570447203
• gnomAD v2: 22-51160231-G-C
• gnomAD v4: 22-50721803-G-C
• MyVariant Identifiers: chr22:g.51160231G>C (hg19) ; chr22:g.50721803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721803G>C , CM000684.2:g.50721803G>C	GRCh38
NC_000022.10:g.51160231G>C , CM000684.1:g.51160231G>C	GRCh37
NC_000022.9:g.49507097G>C	NCBI36
NG_008607.2:g.52449G>C
NG_070230.1:g.57587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3571G>C	ENSP00000489147.2:p.Ala1191Pro
ENST00000414786.7:n.4155G>C
ENST00000445220.7:c.2623G>C	ENSP00000489407.2:p.Ala875Pro
ENST00000664402.2:c.2113G>C	ENSP00000499475.1:p.Ala705Pro
ENST00000673971.2:c.*2569G>C	ENSP00000501192.1:n.*2569G>C
ENST00000445220.6:c.2623G>C	ENSP00000489407.2:p.Ala875Pro
ENST00000262795.6:c.3571G>C	ENSP00000489147.2:p.Ala1191Pro
ENST00000664402.1:c.2113G>C	ENSP00000499475.1:p.Ala705Pro
ENST00000673971.1:c.*2569G>C	ENSP00000501192.1:n.*2569G>C
ENST00000262795.5:c.3967G>C	ENSP00000489147.1:p.Ala1323Pro
ENST00000414786.6:n.4155G>C
ENST00000445220.5:c.3949G>C	ENSP00000489407.1:p.Ala1317Pro