Canonical Allele Identifier: CA10326053

Gene: SHANK3

Linked Data

• dbSNP Id: rs755752107
• ExAC: 22:51159774 G / T
• gnomAD v2: 22-51159774-G-T
• gnomAD v3: 22-50721346-G-T
• gnomAD v4: 22-50721346-G-T
• MyVariant Identifiers: chr22:g.51159774G>T (hg19) ; chr22:g.50721346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721346G>T , CM000684.2:g.50721346G>T	GRCh38
NC_000022.10:g.51159774G>T , CM000684.1:g.51159774G>T	GRCh37
NC_000022.9:g.49506640G>T	NCBI36
NG_008607.2:g.51992G>T
NG_070230.1:g.57130G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3114G>T	ENSP00000489147.2:p.Val1038=
ENST00000414786.7:n.3698G>T
ENST00000445220.7:c.2166G>T	ENSP00000489407.2:p.Val722=
ENST00000664402.2:c.1656G>T	ENSP00000499475.1:p.Val552=
ENST00000673971.2:c.*2112G>T	ENSP00000501192.1:n.*2112G>T
ENST00000445220.6:c.2166G>T	ENSP00000489407.2:p.Val722=
ENST00000262795.6:c.3114G>T	ENSP00000489147.2:p.Val1038=
ENST00000664402.1:c.1656G>T	ENSP00000499475.1:p.Val552=
ENST00000673971.1:c.*2112G>T	ENSP00000501192.1:n.*2112G>T
ENST00000262795.5:c.3510G>T	ENSP00000489147.1:p.Val1170=
ENST00000414786.6:n.3698G>T
ENST00000445220.5:c.3492G>T	ENSP00000489407.1:p.Val1164=