Canonical Allele Identifier: CA10325994

Gene: SHANK3

Linked Data

• dbSNP Id: rs777855252
• ExAC: 22:51159524 C / T
• gnomAD v2: 22-51159524-C-T
• gnomAD v4: 22-50721096-C-T
• MyVariant Identifiers: chr22:g.51159524C>T (hg19) ; chr22:g.50721096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721096C>T , CM000684.2:g.50721096C>T	GRCh38
NC_000022.10:g.51159524C>T , CM000684.1:g.51159524C>T	GRCh37
NC_000022.9:g.49506390C>T	NCBI36
NG_008607.2:g.51742C>T
NG_070230.1:g.56880C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2864C>T	ENSP00000489147.2:p.Pro955Leu
ENST00000414786.7:n.3448C>T
ENST00000445220.7:c.1916C>T	ENSP00000489407.2:p.Pro639Leu
ENST00000664402.2:c.1406C>T	ENSP00000499475.1:p.Pro469Leu
ENST00000673971.2:c.*1862C>T	ENSP00000501192.1:n.*1862C>T
ENST00000445220.6:c.1916C>T	ENSP00000489407.2:p.Pro639Leu
ENST00000262795.6:c.2864C>T	ENSP00000489147.2:p.Pro955Leu
ENST00000664402.1:c.1406C>T	ENSP00000499475.1:p.Pro469Leu
ENST00000673971.1:c.*1862C>T	ENSP00000501192.1:n.*1862C>T
ENST00000262795.5:c.3260C>T	ENSP00000489147.1:p.Pro1087Leu
ENST00000414786.6:n.3448C>T
ENST00000445220.5:c.3242C>T	ENSP00000489407.1:p.Pro1081Leu