Canonical Allele Identifier: CA515259914

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720657-T-C
• MyVariant Identifiers: chr22:g.51159085T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720657T>C , CM000684.2:g.50720657T>C	GRCh38
NC_000022.10:g.51159085T>C , CM000684.1:g.51159085T>C	GRCh37
NC_000022.9:g.49505951T>C	NCBI36
NG_008607.2:g.51303T>C
NG_070230.1:g.56441T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2425T>C	ENSP00000489147.2:p.Phe809Leu
ENST00000414786.7:n.3009T>C
ENST00000445220.7:c.1477T>C	ENSP00000489407.2:p.Phe493Leu
ENST00000664402.2:c.967T>C	ENSP00000499475.1:p.Phe323Leu
ENST00000673971.2:c.*1423T>C	ENSP00000501192.1:n.*1423T>C
ENST00000445220.6:c.1477T>C	ENSP00000489407.2:p.Phe493Leu
ENST00000262795.6:c.2425T>C	ENSP00000489147.2:p.Phe809Leu
ENST00000664402.1:c.967T>C	ENSP00000499475.1:p.Phe323Leu
ENST00000673971.1:c.*1423T>C	ENSP00000501192.1:n.*1423T>C
ENST00000262795.5:c.2821T>C	ENSP00000489147.1:p.Phe941Leu
ENST00000414786.6:n.3009T>C
ENST00000445220.5:c.2803T>C	ENSP00000489407.1:p.Phe935Leu