Canonical Allele Identifier: CA515259338

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720463-T-C
• MyVariant Identifiers: chr22:g.51158891T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720463T>C , CM000684.2:g.50720463T>C	GRCh38
NC_000022.10:g.51158891T>C , CM000684.1:g.51158891T>C	GRCh37
NC_000022.9:g.49505757T>C	NCBI36
NG_008607.2:g.51109T>C
NG_070230.1:g.56247T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2231T>C	ENSP00000489147.2:p.Leu744Pro
ENST00000414786.7:n.2815T>C
ENST00000445220.7:c.1283T>C	ENSP00000489407.2:p.Leu428Pro
ENST00000664402.2:c.773T>C	ENSP00000499475.1:p.Leu258Pro
ENST00000673971.2:c.*1229T>C	ENSP00000501192.1:n.*1229T>C
ENST00000445220.6:c.1283T>C	ENSP00000489407.2:p.Leu428Pro
ENST00000262795.6:c.2231T>C	ENSP00000489147.2:p.Leu744Pro
ENST00000664402.1:c.773T>C	ENSP00000499475.1:p.Leu258Pro
ENST00000673971.1:c.*1229T>C	ENSP00000501192.1:n.*1229T>C
ENST00000262795.5:c.2627T>C	ENSP00000489147.1:p.Leu876Pro
ENST00000414786.6:n.2815T>C
ENST00000445220.5:c.2609T>C	ENSP00000489407.1:p.Leu870Pro