Canonical Allele Identifier: CA515260754

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720951-C-G
• MyVariant Identifiers: chr22:g.51159379C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720951C>G , CM000684.2:g.50720951C>G	GRCh38
NC_000022.10:g.51159379C>G , CM000684.1:g.51159379C>G	GRCh37
NC_000022.9:g.49506245C>G	NCBI36
NG_008607.2:g.51597C>G
NG_070230.1:g.56735C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2719C>G	ENSP00000489147.2:p.Pro907Ala
ENST00000414786.7:n.3303C>G
ENST00000445220.7:c.1771C>G	ENSP00000489407.2:p.Pro591Ala
ENST00000664402.2:c.1261C>G	ENSP00000499475.1:p.Pro421Ala
ENST00000673971.2:c.*1717C>G	ENSP00000501192.1:n.*1717C>G
ENST00000445220.6:c.1771C>G	ENSP00000489407.2:p.Pro591Ala
ENST00000262795.6:c.2719C>G	ENSP00000489147.2:p.Pro907Ala
ENST00000664402.1:c.1261C>G	ENSP00000499475.1:p.Pro421Ala
ENST00000673971.1:c.*1717C>G	ENSP00000501192.1:n.*1717C>G
ENST00000262795.5:c.3115C>G	ENSP00000489147.1:p.Pro1039Ala
ENST00000414786.6:n.3303C>G
ENST00000445220.5:c.3097C>G	ENSP00000489407.1:p.Pro1033Ala