Canonical Allele Identifier: CA515260185

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720751-G-C
• MyVariant Identifiers: chr22:g.51159179G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720751G>C , CM000684.2:g.50720751G>C	GRCh38
NC_000022.10:g.51159179G>C , CM000684.1:g.51159179G>C	GRCh37
NC_000022.9:g.49506045G>C	NCBI36
NG_008607.2:g.51397G>C
NG_070230.1:g.56535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2519G>C	ENSP00000489147.2:p.Ser840Thr
ENST00000414786.7:n.3103G>C
ENST00000445220.7:c.1571G>C	ENSP00000489407.2:p.Ser524Thr
ENST00000664402.2:c.1061G>C	ENSP00000499475.1:p.Ser354Thr
ENST00000673971.2:c.*1517G>C	ENSP00000501192.1:n.*1517G>C
ENST00000445220.6:c.1571G>C	ENSP00000489407.2:p.Ser524Thr
ENST00000262795.6:c.2519G>C	ENSP00000489147.2:p.Ser840Thr
ENST00000664402.1:c.1061G>C	ENSP00000499475.1:p.Ser354Thr
ENST00000673971.1:c.*1517G>C	ENSP00000501192.1:n.*1517G>C
ENST00000262795.5:c.2915G>C	ENSP00000489147.1:p.Ser972Thr
ENST00000414786.6:n.3103G>C
ENST00000445220.5:c.2897G>C	ENSP00000489407.1:p.Ser966Thr