Canonical Allele Identifier: CA515259756

Gene: SHANK3

Linked Data

• dbSNP Id: rs1261815843
• gnomAD v2: 22-51159033-G-T
• gnomAD v4: 22-50720605-G-T
• MyVariant Identifiers: chr22:g.51159033G>T (hg19) ; chr22:g.50720605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720605G>T , CM000684.2:g.50720605G>T	GRCh38
NC_000022.10:g.51159033G>T , CM000684.1:g.51159033G>T	GRCh37
NC_000022.9:g.49505899G>T	NCBI36
NG_008607.2:g.51251G>T
NG_070230.1:g.56389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2373G>T	ENSP00000489147.2:p.Pro791=
ENST00000414786.7:n.2957G>T
ENST00000445220.7:c.1425G>T	ENSP00000489407.2:p.Pro475=
ENST00000664402.2:c.915G>T	ENSP00000499475.1:p.Pro305=
ENST00000673971.2:c.*1371G>T	ENSP00000501192.1:n.*1371G>T
ENST00000445220.6:c.1425G>T	ENSP00000489407.2:p.Pro475=
ENST00000262795.6:c.2373G>T	ENSP00000489147.2:p.Pro791=
ENST00000664402.1:c.915G>T	ENSP00000499475.1:p.Pro305=
ENST00000673971.1:c.*1371G>T	ENSP00000501192.1:n.*1371G>T
ENST00000262795.5:c.2769G>T	ENSP00000489147.1:p.Pro923=
ENST00000414786.6:n.2957G>T
ENST00000445220.5:c.2751G>T	ENSP00000489407.1:p.Pro917=