Canonical Allele Identifier: CA515254901

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697584-C-T
• MyVariant Identifiers: chr22:g.51136012C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697584C>T , CM000684.2:g.50697584C>T	GRCh38
NC_000022.10:g.51136012C>T , CM000684.1:g.51136012C>T	GRCh37
NC_000022.9:g.49482878C>T	NCBI36
NG_008607.2:g.28230C>T
NG_070230.1:g.33449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.968C>T	ENSP00000489147.2:p.Pro323Leu
ENST00000414786.7:n.1552C>T
ENST00000445220.7:c.20C>T	ENSP00000489407.2:p.Pro7Leu
ENST00000673971.2:c.1325C>T	ENSP00000501192.1:p.Pro442Leu
ENST00000445220.6:c.20C>T	ENSP00000489407.2:p.Pro7Leu
ENST00000262795.6:c.968C>T	ENSP00000489147.2:p.Pro323Leu
ENST00000673971.1:c.1325C>T	ENSP00000501192.1:p.Pro442Leu
ENST00000673995.1:c.21C>T
ENST00000262795.5:c.1364C>T	ENSP00000489147.1:p.Pro455Leu
ENST00000414786.6:n.1552C>T
ENST00000445220.5:c.1346C>T	ENSP00000489407.1:p.Pro449Leu