Canonical Allele Identifier: CA515262093

Gene: SHANK3

Linked Data

• dbSNP Id: rs1347252694
• MyVariant Identifiers: chr22:g.51159775C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721347C>T , CM000684.2:g.50721347C>T	GRCh38
NC_000022.10:g.51159775C>T , CM000684.1:g.51159775C>T	GRCh37
NC_000022.9:g.49506641C>T	NCBI36
NG_008607.2:g.51993C>T
NG_070230.1:g.57131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3115C>T	ENSP00000489147.2:p.Pro1039Ser
ENST00000414786.7:n.3699C>T
ENST00000445220.7:c.2167C>T	ENSP00000489407.2:p.Pro723Ser
ENST00000664402.2:c.1657C>T	ENSP00000499475.1:p.Pro553Ser
ENST00000673971.2:c.*2113C>T	ENSP00000501192.1:n.*2113C>T
ENST00000445220.6:c.2167C>T	ENSP00000489407.2:p.Pro723Ser
ENST00000262795.6:c.3115C>T	ENSP00000489147.2:p.Pro1039Ser
ENST00000664402.1:c.1657C>T	ENSP00000499475.1:p.Pro553Ser
ENST00000673971.1:c.*2113C>T	ENSP00000501192.1:n.*2113C>T
ENST00000262795.5:c.3511C>T	ENSP00000489147.1:p.Pro1171Ser
ENST00000414786.6:n.3699C>T
ENST00000445220.5:c.3493C>T	ENSP00000489407.1:p.Pro1165Ser