Canonical Allele Identifier: CA515260457

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720845-C-A
• MyVariant Identifiers: chr22:g.51159273C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720845C>A , CM000684.2:g.50720845C>A	GRCh38
NC_000022.10:g.51159273C>A , CM000684.1:g.51159273C>A	GRCh37
NC_000022.9:g.49506139C>A	NCBI36
NG_008607.2:g.51491C>A
NG_070230.1:g.56629C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2613C>A	ENSP00000489147.2:p.Gly871=
ENST00000414786.7:n.3197C>A
ENST00000445220.7:c.1665C>A	ENSP00000489407.2:p.Gly555=
ENST00000664402.2:c.1155C>A	ENSP00000499475.1:p.Gly385=
ENST00000673971.2:c.*1611C>A	ENSP00000501192.1:n.*1611C>A
ENST00000445220.6:c.1665C>A	ENSP00000489407.2:p.Gly555=
ENST00000262795.6:c.2613C>A	ENSP00000489147.2:p.Gly871=
ENST00000664402.1:c.1155C>A	ENSP00000499475.1:p.Gly385=
ENST00000673971.1:c.*1611C>A	ENSP00000501192.1:n.*1611C>A
ENST00000262795.5:c.3009C>A	ENSP00000489147.1:p.Gly1003=
ENST00000414786.6:n.3197C>A
ENST00000445220.5:c.2991C>A	ENSP00000489407.1:p.Gly997=