Canonical Allele Identifier: CA515255046

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697635-G-T
• MyVariant Identifiers: chr22:g.51136063G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697635G>T , CM000684.2:g.50697635G>T	GRCh38
NC_000022.10:g.51136063G>T , CM000684.1:g.51136063G>T	GRCh37
NC_000022.9:g.49482929G>T	NCBI36
NG_008607.2:g.28281G>T
NG_070230.1:g.33500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1019G>T	ENSP00000489147.2:p.Gly340Val
ENST00000414786.7:n.1603G>T
ENST00000445220.7:c.71G>T	ENSP00000489407.2:p.Gly24Val
ENST00000673971.2:c.1376G>T	ENSP00000501192.1:p.Gly459Val
ENST00000445220.6:c.71G>T	ENSP00000489407.2:p.Gly24Val
ENST00000262795.6:c.1019G>T	ENSP00000489147.2:p.Gly340Val
ENST00000673971.1:c.1376G>T	ENSP00000501192.1:p.Gly459Val
ENST00000673995.1:c.72G>T
ENST00000262795.5:c.1415G>T	ENSP00000489147.1:p.Gly472Val
ENST00000414786.6:n.1603G>T
ENST00000445220.5:c.1397G>T	ENSP00000489407.1:p.Gly466Val