Canonical Allele Identifier: CA515260066

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720710-G-T
• MyVariant Identifiers: chr22:g.51159138G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720710G>T , CM000684.2:g.50720710G>T	GRCh38
NC_000022.10:g.51159138G>T , CM000684.1:g.51159138G>T	GRCh37
NC_000022.9:g.49506004G>T	NCBI36
NG_008607.2:g.51356G>T
NG_070230.1:g.56494G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2478G>T	ENSP00000489147.2:p.Gln826His
ENST00000414786.7:n.3062G>T
ENST00000445220.7:c.1530G>T	ENSP00000489407.2:p.Gln510His
ENST00000664402.2:c.1020G>T	ENSP00000499475.1:p.Gln340His
ENST00000673971.2:c.*1476G>T	ENSP00000501192.1:n.*1476G>T
ENST00000445220.6:c.1530G>T	ENSP00000489407.2:p.Gln510His
ENST00000262795.6:c.2478G>T	ENSP00000489147.2:p.Gln826His
ENST00000664402.1:c.1020G>T	ENSP00000499475.1:p.Gln340His
ENST00000673971.1:c.*1476G>T	ENSP00000501192.1:n.*1476G>T
ENST00000262795.5:c.2874G>T	ENSP00000489147.1:p.Gln958His
ENST00000414786.6:n.3062G>T
ENST00000445220.5:c.2856G>T	ENSP00000489407.1:p.Gln952His