Canonical Allele Identifier: CA515259788

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720617-C-G
• MyVariant Identifiers: chr22:g.51159045C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720617C>G , CM000684.2:g.50720617C>G	GRCh38
NC_000022.10:g.51159045C>G , CM000684.1:g.51159045C>G	GRCh37
NC_000022.9:g.49505911C>G	NCBI36
NG_008607.2:g.51263C>G
NG_070230.1:g.56401C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2385C>G	ENSP00000489147.2:p.Asp795Glu
ENST00000414786.7:n.2969C>G
ENST00000445220.7:c.1437C>G	ENSP00000489407.2:p.Asp479Glu
ENST00000664402.2:c.927C>G	ENSP00000499475.1:p.Asp309Glu
ENST00000673971.2:c.*1383C>G	ENSP00000501192.1:n.*1383C>G
ENST00000445220.6:c.1437C>G	ENSP00000489407.2:p.Asp479Glu
ENST00000262795.6:c.2385C>G	ENSP00000489147.2:p.Asp795Glu
ENST00000664402.1:c.927C>G	ENSP00000499475.1:p.Asp309Glu
ENST00000673971.1:c.*1383C>G	ENSP00000501192.1:n.*1383C>G
ENST00000262795.5:c.2781C>G	ENSP00000489147.1:p.Asp927Glu
ENST00000414786.6:n.2969C>G
ENST00000445220.5:c.2763C>G	ENSP00000489407.1:p.Asp921Glu