Canonical Allele Identifier: CA754138162

Gene: SHANK3

Linked Data

• dbSNP Id: rs1442180540
• gnomAD v3: 22-50697510-G-A
• gnomAD v4: 22-50697510-G-A
• MyVariant Identifiers: chr22:g.51135938G>A (hg19) ; chr22:g.50697510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697510G>A , CM000684.2:g.50697510G>A	GRCh38
NC_000022.10:g.51135938G>A , CM000684.1:g.51135938G>A	GRCh37
NC_000022.9:g.49482804G>A	NCBI36
NG_008607.2:g.27869G>A
NG_070230.1:g.33088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-54G>A	ENSP00000489147.2:n.948-54G>A
ENST00000414786.7:n.1532-54G>A
ENST00000673971.2:c.1305-54G>A	ENSP00000501192.1:n.1305-54G>A
ENST00000262795.6:c.948-54G>A	ENSP00000489147.2:n.948-54G>A
ENST00000673971.1:c.1305-54G>A	ENSP00000501192.1:n.1305-54G>A
ENST00000262795.5:c.1345-55G>A	ENSP00000489147.1:n.1345-55G>A
ENST00000414786.6:n.1532-54G>A
ENST00000445220.5:c.1326-54G>A	ENSP00000489407.1:n.1326-54G>A