Canonical Allele Identifier: CA515261022

Gene: SHANK3

Linked Data

• dbSNP Id: rs1184801629
• gnomAD v3: 22-50721050-C-T
• gnomAD v4: 22-50721050-C-T
• MyVariant Identifiers: chr22:g.51159478C>T (hg19) ; chr22:g.50721050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721050C>T , CM000684.2:g.50721050C>T	GRCh38
NC_000022.10:g.51159478C>T , CM000684.1:g.51159478C>T	GRCh37
NC_000022.9:g.49506344C>T	NCBI36
NG_008607.2:g.51696C>T
NG_070230.1:g.56834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2818C>T	ENSP00000489147.2:p.Pro940Ser
ENST00000414786.7:n.3402C>T
ENST00000445220.7:c.1870C>T	ENSP00000489407.2:p.Pro624Ser
ENST00000664402.2:c.1360C>T	ENSP00000499475.1:p.Pro454Ser
ENST00000673971.2:c.*1816C>T	ENSP00000501192.1:n.*1816C>T
ENST00000445220.6:c.1870C>T	ENSP00000489407.2:p.Pro624Ser
ENST00000262795.6:c.2818C>T	ENSP00000489147.2:p.Pro940Ser
ENST00000664402.1:c.1360C>T	ENSP00000499475.1:p.Pro454Ser
ENST00000673971.1:c.*1816C>T	ENSP00000501192.1:n.*1816C>T
ENST00000262795.5:c.3214C>T	ENSP00000489147.1:p.Pro1072Ser
ENST00000414786.6:n.3402C>T
ENST00000445220.5:c.3196C>T	ENSP00000489407.1:p.Pro1066Ser