Canonical Allele Identifier: CA515260735

Gene: SHANK3

Linked Data

• dbSNP Id: rs1282037795
• gnomAD v2: 22-51159371-G-T
• gnomAD v4: 22-50720943-G-T
• MyVariant Identifiers: chr22:g.51159371G>T (hg19) ; chr22:g.50720943G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720943G>T , CM000684.2:g.50720943G>T	GRCh38
NC_000022.10:g.51159371G>T , CM000684.1:g.51159371G>T	GRCh37
NC_000022.9:g.49506237G>T	NCBI36
NG_008607.2:g.51589G>T
NG_070230.1:g.56727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2711G>T	ENSP00000489147.2:p.Gly904Val
ENST00000414786.7:n.3295G>T
ENST00000445220.7:c.1763G>T	ENSP00000489407.2:p.Gly588Val
ENST00000664402.2:c.1253G>T	ENSP00000499475.1:p.Gly418Val
ENST00000673971.2:c.*1709G>T	ENSP00000501192.1:n.*1709G>T
ENST00000445220.6:c.1763G>T	ENSP00000489407.2:p.Gly588Val
ENST00000262795.6:c.2711G>T	ENSP00000489147.2:p.Gly904Val
ENST00000664402.1:c.1253G>T	ENSP00000499475.1:p.Gly418Val
ENST00000673971.1:c.*1709G>T	ENSP00000501192.1:n.*1709G>T
ENST00000262795.5:c.3107G>T	ENSP00000489147.1:p.Gly1036Val
ENST00000414786.6:n.3295G>T
ENST00000445220.5:c.3089G>T	ENSP00000489407.1:p.Gly1030Val