Canonical Allele Identifier: CA515261331

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721162-T-C
• MyVariant Identifiers: chr22:g.51159590T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721162T>C , CM000684.2:g.50721162T>C	GRCh38
NC_000022.10:g.51159590T>C , CM000684.1:g.51159590T>C	GRCh37
NC_000022.9:g.49506456T>C	NCBI36
NG_008607.2:g.51808T>C
NG_070230.1:g.56946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2930T>C	ENSP00000489147.2:p.Leu977Pro
ENST00000414786.7:n.3514T>C
ENST00000445220.7:c.1982T>C	ENSP00000489407.2:p.Leu661Pro
ENST00000664402.2:c.1472T>C	ENSP00000499475.1:p.Leu491Pro
ENST00000673971.2:c.*1928T>C	ENSP00000501192.1:n.*1928T>C
ENST00000445220.6:c.1982T>C	ENSP00000489407.2:p.Leu661Pro
ENST00000262795.6:c.2930T>C	ENSP00000489147.2:p.Leu977Pro
ENST00000664402.1:c.1472T>C	ENSP00000499475.1:p.Leu491Pro
ENST00000673971.1:c.*1928T>C	ENSP00000501192.1:n.*1928T>C
ENST00000262795.5:c.3326T>C	ENSP00000489147.1:p.Leu1109Pro
ENST00000414786.6:n.3514T>C
ENST00000445220.5:c.3308T>C	ENSP00000489407.1:p.Leu1103Pro