Canonical Allele Identifier: CA10326069

Gene: SHANK3

Linked Data

• dbSNP Id: rs755995497
• ExAC: 22:51159823 C / T
• gnomAD v2: 22-51159823-C-T
• gnomAD v4: 22-50721395-C-T
• MyVariant Identifiers: chr22:g.51159823C>T (hg19) ; chr22:g.50721395C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721395C>T , CM000684.2:g.50721395C>T	GRCh38
NC_000022.10:g.51159823C>T , CM000684.1:g.51159823C>T	GRCh37
NC_000022.9:g.49506689C>T	NCBI36
NG_008607.2:g.52041C>T
NG_070230.1:g.57179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3163C>T	ENSP00000489147.2:p.Pro1055Ser
ENST00000414786.7:n.3747C>T
ENST00000445220.7:c.2215C>T	ENSP00000489407.2:p.Pro739Ser
ENST00000664402.2:c.1705C>T	ENSP00000499475.1:p.Pro569Ser
ENST00000673971.2:c.*2161C>T	ENSP00000501192.1:n.*2161C>T
ENST00000445220.6:c.2215C>T	ENSP00000489407.2:p.Pro739Ser
ENST00000262795.6:c.3163C>T	ENSP00000489147.2:p.Pro1055Ser
ENST00000664402.1:c.1705C>T	ENSP00000499475.1:p.Pro569Ser
ENST00000673971.1:c.*2161C>T	ENSP00000501192.1:n.*2161C>T
ENST00000262795.5:c.3559C>T	ENSP00000489147.1:p.Pro1187Ser
ENST00000414786.6:n.3747C>T
ENST00000445220.5:c.3541C>T	ENSP00000489407.1:p.Pro1181Ser