Canonical Allele Identifier: CA515261140

Gene: SHANK3

Linked Data

• dbSNP Id: rs748333980
• gnomAD v2: 22-51159522-G-T
• gnomAD v4: 22-50721094-G-T
• MyVariant Identifiers: chr22:g.51159522G>T (hg19) ; chr22:g.50721094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721094G>T , CM000684.2:g.50721094G>T	GRCh38
NC_000022.10:g.51159522G>T , CM000684.1:g.51159522G>T	GRCh37
NC_000022.9:g.49506388G>T	NCBI36
NG_008607.2:g.51740G>T
NG_070230.1:g.56878G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2862G>T	ENSP00000489147.2:p.Gly954=
ENST00000414786.7:n.3446G>T
ENST00000445220.7:c.1914G>T	ENSP00000489407.2:p.Gly638=
ENST00000664402.2:c.1404G>T	ENSP00000499475.1:p.Gly468=
ENST00000673971.2:c.*1860G>T	ENSP00000501192.1:n.*1860G>T
ENST00000445220.6:c.1914G>T	ENSP00000489407.2:p.Gly638=
ENST00000262795.6:c.2862G>T	ENSP00000489147.2:p.Gly954=
ENST00000664402.1:c.1404G>T	ENSP00000499475.1:p.Gly468=
ENST00000673971.1:c.*1860G>T	ENSP00000501192.1:n.*1860G>T
ENST00000262795.5:c.3258G>T	ENSP00000489147.1:p.Gly1086=
ENST00000414786.6:n.3446G>T
ENST00000445220.5:c.3240G>T	ENSP00000489407.1:p.Gly1080=