Canonical Allele Identifier: CA515264415

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51160522C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722094C>T , CM000684.2:g.50722094C>T	GRCh38
NC_000022.10:g.51160522C>T , CM000684.1:g.51160522C>T	GRCh37
NC_000022.9:g.49507388C>T	NCBI36
NG_008607.2:g.52740C>T
NG_070230.1:g.57878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3862C>T	ENSP00000489147.2:p.Pro1288Ser
ENST00000414786.7:n.4446C>T
ENST00000445220.7:c.2914C>T	ENSP00000489407.2:p.Pro972Ser
ENST00000664402.2:c.2404C>T	ENSP00000499475.1:p.Pro802Ser
ENST00000673971.2:c.*2860C>T	ENSP00000501192.1:n.*2860C>T
ENST00000445220.6:c.2914C>T	ENSP00000489407.2:p.Pro972Ser
ENST00000262795.6:c.3862C>T	ENSP00000489147.2:p.Pro1288Ser
ENST00000664402.1:c.2404C>T	ENSP00000499475.1:p.Pro802Ser
ENST00000673971.1:c.*2860C>T	ENSP00000501192.1:n.*2860C>T
ENST00000262795.5:c.4258C>T	ENSP00000489147.1:p.Pro1420Ser
ENST00000414786.6:n.4446C>T
ENST00000445220.5:c.4240C>T	ENSP00000489407.1:p.Pro1414Ser