Canonical Allele Identifier: CA515264777

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50722211-C-A
• MyVariant Identifiers: chr22:g.51160639C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722211C>A , CM000684.2:g.50722211C>A	GRCh38
NC_000022.10:g.51160639C>A , CM000684.1:g.51160639C>A	GRCh37
NC_000022.9:g.49507505C>A	NCBI36
NG_008607.2:g.52857C>A
NG_070230.1:g.57995C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3979C>A	ENSP00000489147.2:p.Pro1327Thr
ENST00000414786.7:n.4563C>A
ENST00000445220.7:c.3031C>A	ENSP00000489407.2:p.Pro1011Thr
ENST00000664402.2:c.2521C>A	ENSP00000499475.1:p.Pro841Thr
ENST00000673971.2:c.*2977C>A	ENSP00000501192.1:n.*2977C>A
ENST00000445220.6:c.3031C>A	ENSP00000489407.2:p.Pro1011Thr
ENST00000262795.6:c.3979C>A	ENSP00000489147.2:p.Pro1327Thr
ENST00000664402.1:c.2521C>A	ENSP00000499475.1:p.Pro841Thr
ENST00000673971.1:c.*2977C>A	ENSP00000501192.1:n.*2977C>A
ENST00000262795.5:c.4375C>A	ENSP00000489147.1:p.Pro1459Thr
ENST00000414786.6:n.4563C>A
ENST00000445220.5:c.4357C>A	ENSP00000489407.1:p.Pro1453Thr