Canonical Allele Identifier: CA515259258

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720435-G-T
• MyVariant Identifiers: chr22:g.51158863G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720435G>T , CM000684.2:g.50720435G>T	GRCh38
NC_000022.10:g.51158863G>T , CM000684.1:g.51158863G>T	GRCh37
NC_000022.9:g.49505729G>T	NCBI36
NG_008607.2:g.51081G>T
NG_070230.1:g.56219G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2203G>T	ENSP00000489147.2:p.Ala735Ser
ENST00000414786.7:n.2787G>T
ENST00000445220.7:c.1255G>T	ENSP00000489407.2:p.Ala419Ser
ENST00000664402.2:c.745G>T	ENSP00000499475.1:p.Ala249Ser
ENST00000673971.2:c.*1201G>T	ENSP00000501192.1:n.*1201G>T
ENST00000445220.6:c.1255G>T	ENSP00000489407.2:p.Ala419Ser
ENST00000262795.6:c.2203G>T	ENSP00000489147.2:p.Ala735Ser
ENST00000664402.1:c.745G>T	ENSP00000499475.1:p.Ala249Ser
ENST00000673971.1:c.*1201G>T	ENSP00000501192.1:n.*1201G>T
ENST00000262795.5:c.2599G>T	ENSP00000489147.1:p.Ala867Ser
ENST00000414786.6:n.2787G>T
ENST00000445220.5:c.2581G>T	ENSP00000489407.1:p.Ala861Ser