Canonical Allele Identifier: CA325578856

Gene: SHANK3

Linked Data

• dbSNP Id: rs1004886009
• gnomAD v2: 22-51159678-C-G
• MyVariant Identifiers: chr22:g.51159678C>G (hg19) ; chr22:g.50721250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721250C>G , CM000684.2:g.50721250C>G	GRCh38
NC_000022.10:g.51159678C>G , CM000684.1:g.51159678C>G	GRCh37
NC_000022.9:g.49506544C>G	NCBI36
NG_008607.2:g.51896C>G
NG_070230.1:g.57034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3018C>G	ENSP00000489147.2:p.Pro1006=
ENST00000414786.7:n.3602C>G
ENST00000445220.7:c.2070C>G	ENSP00000489407.2:p.Pro690=
ENST00000664402.2:c.1560C>G	ENSP00000499475.1:p.Pro520=
ENST00000673971.2:c.*2016C>G	ENSP00000501192.1:n.*2016C>G
ENST00000445220.6:c.2070C>G	ENSP00000489407.2:p.Pro690=
ENST00000262795.6:c.3018C>G	ENSP00000489147.2:p.Pro1006=
ENST00000664402.1:c.1560C>G	ENSP00000499475.1:p.Pro520=
ENST00000673971.1:c.*2016C>G	ENSP00000501192.1:n.*2016C>G
ENST00000262795.5:c.3414C>G	ENSP00000489147.1:p.Pro1138=
ENST00000414786.6:n.3602C>G
ENST00000445220.5:c.3396C>G	ENSP00000489407.1:p.Pro1132=