Canonical Allele Identifier: CA515259004

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720347-C-T
• MyVariant Identifiers: chr22:g.51158775C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720347C>T , CM000684.2:g.50720347C>T	GRCh38
NC_000022.10:g.51158775C>T , CM000684.1:g.51158775C>T	GRCh37
NC_000022.9:g.49505641C>T	NCBI36
NG_008607.2:g.50993C>T
NG_070230.1:g.56131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2115C>T	ENSP00000489147.2:p.Phe705=
ENST00000414786.7:n.2699C>T
ENST00000445220.7:c.1167C>T	ENSP00000489407.2:p.Phe389=
ENST00000664402.2:c.657C>T	ENSP00000499475.1:p.Phe219=
ENST00000673971.2:c.*1113C>T	ENSP00000501192.1:n.*1113C>T
ENST00000445220.6:c.1167C>T	ENSP00000489407.2:p.Phe389=
ENST00000262795.6:c.2115C>T	ENSP00000489147.2:p.Phe705=
ENST00000664402.1:c.657C>T	ENSP00000499475.1:p.Phe219=
ENST00000673971.1:c.*1113C>T	ENSP00000501192.1:n.*1113C>T
ENST00000262795.5:c.2511C>T	ENSP00000489147.1:p.Phe837=
ENST00000414786.6:n.2699C>T
ENST00000445220.5:c.2493C>T	ENSP00000489407.1:p.Phe831=