Canonical Allele Identifier: CA515260627

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720905-C-G
• MyVariant Identifiers: chr22:g.51159333C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720905C>G , CM000684.2:g.50720905C>G	GRCh38
NC_000022.10:g.51159333C>G , CM000684.1:g.51159333C>G	GRCh37
NC_000022.9:g.49506199C>G	NCBI36
NG_008607.2:g.51551C>G
NG_070230.1:g.56689C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2673C>G	ENSP00000489147.2:p.Arg891=
ENST00000414786.7:n.3257C>G
ENST00000445220.7:c.1725C>G	ENSP00000489407.2:p.Arg575=
ENST00000664402.2:c.1215C>G	ENSP00000499475.1:p.Arg405=
ENST00000673971.2:c.*1671C>G	ENSP00000501192.1:n.*1671C>G
ENST00000445220.6:c.1725C>G	ENSP00000489407.2:p.Arg575=
ENST00000262795.6:c.2673C>G	ENSP00000489147.2:p.Arg891=
ENST00000664402.1:c.1215C>G	ENSP00000499475.1:p.Arg405=
ENST00000673971.1:c.*1671C>G	ENSP00000501192.1:n.*1671C>G
ENST00000262795.5:c.3069C>G	ENSP00000489147.1:p.Arg1023=
ENST00000414786.6:n.3257C>G
ENST00000445220.5:c.3051C>G	ENSP00000489407.1:p.Arg1017=