Canonical Allele Identifier: CA515263512

Gene: SHANK3

Linked Data

• dbSNP Id: rs1253316526
• gnomAD v4: 22-50721795-C-T
• MyVariant Identifiers: chr22:g.51160223C>T (hg19) ; chr22:g.50721795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721795C>T , CM000684.2:g.50721795C>T	GRCh38
NC_000022.10:g.51160223C>T , CM000684.1:g.51160223C>T	GRCh37
NC_000022.9:g.49507089C>T	NCBI36
NG_008607.2:g.52441C>T
NG_070230.1:g.57579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3563C>T	ENSP00000489147.2:p.Thr1188Ile
ENST00000414786.7:n.4147C>T
ENST00000445220.7:c.2615C>T	ENSP00000489407.2:p.Thr872Ile
ENST00000664402.2:c.2105C>T	ENSP00000499475.1:p.Thr702Ile
ENST00000673971.2:c.*2561C>T	ENSP00000501192.1:n.*2561C>T
ENST00000445220.6:c.2615C>T	ENSP00000489407.2:p.Thr872Ile
ENST00000262795.6:c.3563C>T	ENSP00000489147.2:p.Thr1188Ile
ENST00000664402.1:c.2105C>T	ENSP00000499475.1:p.Thr702Ile
ENST00000673971.1:c.*2561C>T	ENSP00000501192.1:n.*2561C>T
ENST00000262795.5:c.3959C>T	ENSP00000489147.1:p.Thr1320Ile
ENST00000414786.6:n.4147C>T
ENST00000445220.5:c.3941C>T	ENSP00000489407.1:p.Thr1314Ile