Canonical Allele Identifier: CA515260591

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720892-T-G
• MyVariant Identifiers: chr22:g.51159320T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720892T>G , CM000684.2:g.50720892T>G	GRCh38
NC_000022.10:g.51159320T>G , CM000684.1:g.51159320T>G	GRCh37
NC_000022.9:g.49506186T>G	NCBI36
NG_008607.2:g.51538T>G
NG_070230.1:g.56676T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2660T>G	ENSP00000489147.2:p.Leu887Arg
ENST00000414786.7:n.3244T>G
ENST00000445220.7:c.1712T>G	ENSP00000489407.2:p.Leu571Arg
ENST00000664402.2:c.1202T>G	ENSP00000499475.1:p.Leu401Arg
ENST00000673971.2:c.*1658T>G	ENSP00000501192.1:n.*1658T>G
ENST00000445220.6:c.1712T>G	ENSP00000489407.2:p.Leu571Arg
ENST00000262795.6:c.2660T>G	ENSP00000489147.2:p.Leu887Arg
ENST00000664402.1:c.1202T>G	ENSP00000499475.1:p.Leu401Arg
ENST00000673971.1:c.*1658T>G	ENSP00000501192.1:n.*1658T>G
ENST00000262795.5:c.3056T>G	ENSP00000489147.1:p.Leu1019Arg
ENST00000414786.6:n.3244T>G
ENST00000445220.5:c.3038T>G	ENSP00000489407.1:p.Leu1013Arg