Canonical Allele Identifier: CA515259849

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720637-G-T
• MyVariant Identifiers: chr22:g.51159065G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720637G>T , CM000684.2:g.50720637G>T	GRCh38
NC_000022.10:g.51159065G>T , CM000684.1:g.51159065G>T	GRCh37
NC_000022.9:g.49505931G>T	NCBI36
NG_008607.2:g.51283G>T
NG_070230.1:g.56421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2405G>T	ENSP00000489147.2:p.Gly802Val
ENST00000414786.7:n.2989G>T
ENST00000445220.7:c.1457G>T	ENSP00000489407.2:p.Gly486Val
ENST00000664402.2:c.947G>T	ENSP00000499475.1:p.Gly316Val
ENST00000673971.2:c.*1403G>T	ENSP00000501192.1:n.*1403G>T
ENST00000445220.6:c.1457G>T	ENSP00000489407.2:p.Gly486Val
ENST00000262795.6:c.2405G>T	ENSP00000489147.2:p.Gly802Val
ENST00000664402.1:c.947G>T	ENSP00000499475.1:p.Gly316Val
ENST00000673971.1:c.*1403G>T	ENSP00000501192.1:n.*1403G>T
ENST00000262795.5:c.2801G>T	ENSP00000489147.1:p.Gly934Val
ENST00000414786.6:n.2989G>T
ENST00000445220.5:c.2783G>T	ENSP00000489407.1:p.Gly928Val