Canonical Allele Identifier: CA515262352

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721425-G-C
• MyVariant Identifiers: chr22:g.51159853G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721425G>C , CM000684.2:g.50721425G>C	GRCh38
NC_000022.10:g.51159853G>C , CM000684.1:g.51159853G>C	GRCh37
NC_000022.9:g.49506719G>C	NCBI36
NG_008607.2:g.52071G>C
NG_070230.1:g.57209G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3193G>C	ENSP00000489147.2:p.Val1065Leu
ENST00000414786.7:n.3777G>C
ENST00000445220.7:c.2245G>C	ENSP00000489407.2:p.Val749Leu
ENST00000664402.2:c.1735G>C	ENSP00000499475.1:p.Val579Leu
ENST00000673971.2:c.*2191G>C	ENSP00000501192.1:n.*2191G>C
ENST00000445220.6:c.2245G>C	ENSP00000489407.2:p.Val749Leu
ENST00000262795.6:c.3193G>C	ENSP00000489147.2:p.Val1065Leu
ENST00000664402.1:c.1735G>C	ENSP00000499475.1:p.Val579Leu
ENST00000673971.1:c.*2191G>C	ENSP00000501192.1:n.*2191G>C
ENST00000262795.5:c.3589G>C	ENSP00000489147.1:p.Val1197Leu
ENST00000414786.6:n.3777G>C
ENST00000445220.5:c.3571G>C	ENSP00000489407.1:p.Val1191Leu