Canonical Allele Identifier: CA515259761

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720607-C-T
• MyVariant Identifiers: chr22:g.51159035C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720607C>T , CM000684.2:g.50720607C>T	GRCh38
NC_000022.10:g.51159035C>T , CM000684.1:g.51159035C>T	GRCh37
NC_000022.9:g.49505901C>T	NCBI36
NG_008607.2:g.51253C>T
NG_070230.1:g.56391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2375C>T	ENSP00000489147.2:p.Pro792Leu
ENST00000414786.7:n.2959C>T
ENST00000445220.7:c.1427C>T	ENSP00000489407.2:p.Pro476Leu
ENST00000664402.2:c.917C>T	ENSP00000499475.1:p.Pro306Leu
ENST00000673971.2:c.*1373C>T	ENSP00000501192.1:n.*1373C>T
ENST00000445220.6:c.1427C>T	ENSP00000489407.2:p.Pro476Leu
ENST00000262795.6:c.2375C>T	ENSP00000489147.2:p.Pro792Leu
ENST00000664402.1:c.917C>T	ENSP00000499475.1:p.Pro306Leu
ENST00000673971.1:c.*1373C>T	ENSP00000501192.1:n.*1373C>T
ENST00000262795.5:c.2771C>T	ENSP00000489147.1:p.Pro924Leu
ENST00000414786.6:n.2959C>T
ENST00000445220.5:c.2753C>T	ENSP00000489407.1:p.Pro918Leu