Canonical Allele Identifier: CA515259016

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720351-C-A
• MyVariant Identifiers: chr22:g.51158779C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720351C>A , CM000684.2:g.50720351C>A	GRCh38
NC_000022.10:g.51158779C>A , CM000684.1:g.51158779C>A	GRCh37
NC_000022.9:g.49505645C>A	NCBI36
NG_008607.2:g.50997C>A
NG_070230.1:g.56135C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2119C>A	ENSP00000489147.2:p.Pro707Thr
ENST00000414786.7:n.2703C>A
ENST00000445220.7:c.1171C>A	ENSP00000489407.2:p.Pro391Thr
ENST00000664402.2:c.661C>A	ENSP00000499475.1:p.Pro221Thr
ENST00000673971.2:c.*1117C>A	ENSP00000501192.1:n.*1117C>A
ENST00000445220.6:c.1171C>A	ENSP00000489407.2:p.Pro391Thr
ENST00000262795.6:c.2119C>A	ENSP00000489147.2:p.Pro707Thr
ENST00000664402.1:c.661C>A	ENSP00000499475.1:p.Pro221Thr
ENST00000673971.1:c.*1117C>A	ENSP00000501192.1:n.*1117C>A
ENST00000262795.5:c.2515C>A	ENSP00000489147.1:p.Pro839Thr
ENST00000414786.6:n.2703C>A
ENST00000445220.5:c.2497C>A	ENSP00000489407.1:p.Pro833Thr