Canonical Allele Identifier: CA515261009

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721045-C-A
• MyVariant Identifiers: chr22:g.51159473C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721045C>A , CM000684.2:g.50721045C>A	GRCh38
NC_000022.10:g.51159473C>A , CM000684.1:g.51159473C>A	GRCh37
NC_000022.9:g.49506339C>A	NCBI36
NG_008607.2:g.51691C>A
NG_070230.1:g.56829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2813C>A	ENSP00000489147.2:p.Pro938His
ENST00000414786.7:n.3397C>A
ENST00000445220.7:c.1865C>A	ENSP00000489407.2:p.Pro622His
ENST00000664402.2:c.1355C>A	ENSP00000499475.1:p.Pro452His
ENST00000673971.2:c.*1811C>A	ENSP00000501192.1:n.*1811C>A
ENST00000445220.6:c.1865C>A	ENSP00000489407.2:p.Pro622His
ENST00000262795.6:c.2813C>A	ENSP00000489147.2:p.Pro938His
ENST00000664402.1:c.1355C>A	ENSP00000499475.1:p.Pro452His
ENST00000673971.1:c.*1811C>A	ENSP00000501192.1:n.*1811C>A
ENST00000262795.5:c.3209C>A	ENSP00000489147.1:p.Pro1070His
ENST00000414786.6:n.3397C>A
ENST00000445220.5:c.3191C>A	ENSP00000489407.1:p.Pro1064His