Canonical Allele Identifier: CA515259176

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720406-G-C
• MyVariant Identifiers: chr22:g.51158834G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720406G>C , CM000684.2:g.50720406G>C	GRCh38
NC_000022.10:g.51158834G>C , CM000684.1:g.51158834G>C	GRCh37
NC_000022.9:g.49505700G>C	NCBI36
NG_008607.2:g.51052G>C
NG_070230.1:g.56190G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2174G>C	ENSP00000489147.2:p.Gly725Ala
ENST00000414786.7:n.2758G>C
ENST00000445220.7:c.1226G>C	ENSP00000489407.2:p.Gly409Ala
ENST00000664402.2:c.716G>C	ENSP00000499475.1:p.Gly239Ala
ENST00000673971.2:c.*1172G>C	ENSP00000501192.1:n.*1172G>C
ENST00000445220.6:c.1226G>C	ENSP00000489407.2:p.Gly409Ala
ENST00000262795.6:c.2174G>C	ENSP00000489147.2:p.Gly725Ala
ENST00000664402.1:c.716G>C	ENSP00000499475.1:p.Gly239Ala
ENST00000673971.1:c.*1172G>C	ENSP00000501192.1:n.*1172G>C
ENST00000262795.5:c.2570G>C	ENSP00000489147.1:p.Gly857Ala
ENST00000414786.6:n.2758G>C
ENST00000445220.5:c.2552G>C	ENSP00000489407.1:p.Gly851Ala