Canonical Allele Identifier: CA754138075

Gene: SHANK3

Linked Data

• dbSNP Id: rs1355274950
• gnomAD v3: 22-50697491-C-T
• gnomAD v4: 22-50697491-C-T
• MyVariant Identifiers: chr22:g.51135919C>T (hg19) ; chr22:g.50697491C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697491C>T , CM000684.2:g.50697491C>T	GRCh38
NC_000022.10:g.51135919C>T , CM000684.1:g.51135919C>T	GRCh37
NC_000022.9:g.49482785C>T	NCBI36
NG_008607.2:g.27850C>T
NG_070230.1:g.33069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-73C>T	ENSP00000489147.2:n.948-73C>T
ENST00000414786.7:n.1532-73C>T
ENST00000673971.2:c.1305-73C>T	ENSP00000501192.1:n.1305-73C>T
ENST00000262795.6:c.948-73C>T	ENSP00000489147.2:n.948-73C>T
ENST00000673971.1:c.1305-73C>T	ENSP00000501192.1:n.1305-73C>T
ENST00000262795.5:c.1345-74C>T	ENSP00000489147.1:n.1345-74C>T
ENST00000414786.6:n.1532-73C>T
ENST00000445220.5:c.1326-73C>T	ENSP00000489407.1:n.1326-73C>T