Canonical Allele Identifier: CA515254950

Gene: SHANK3

Linked Data

• dbSNP Id: rs2146799002
• gnomAD v3: 22-50697601-G-A
• gnomAD v4: 22-50697601-G-A
• MyVariant Identifiers: chr22:g.51136029G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697601G>A , CM000684.2:g.50697601G>A	GRCh38
NC_000022.10:g.51136029G>A , CM000684.1:g.51136029G>A	GRCh37
NC_000022.9:g.49482895G>A	NCBI36
NG_008607.2:g.28247G>A
NG_070230.1:g.33466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.985G>A	ENSP00000489147.2:p.Gly329Ser
ENST00000414786.7:n.1569G>A
ENST00000445220.7:c.37G>A	ENSP00000489407.2:p.Gly13Ser
ENST00000673971.2:c.1342G>A	ENSP00000501192.1:p.Gly448Ser
ENST00000445220.6:c.37G>A	ENSP00000489407.2:p.Gly13Ser
ENST00000262795.6:c.985G>A	ENSP00000489147.2:p.Gly329Ser
ENST00000673971.1:c.1342G>A	ENSP00000501192.1:p.Gly448Ser
ENST00000673995.1:c.38G>A
ENST00000262795.5:c.1381G>A	ENSP00000489147.1:p.Gly461Ser
ENST00000414786.6:n.1569G>A
ENST00000445220.5:c.1363G>A	ENSP00000489407.1:p.Gly455Ser