Canonical Allele Identifier: CA515261011

Gene: SHANK3

Linked Data

• dbSNP Id: rs1410020795
• gnomAD v3: 22-50721046-C-G
• gnomAD v4: 22-50721046-C-G
• MyVariant Identifiers: chr22:g.51159474C>G (hg19) ; chr22:g.50721046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721046C>G , CM000684.2:g.50721046C>G	GRCh38
NC_000022.10:g.51159474C>G , CM000684.1:g.51159474C>G	GRCh37
NC_000022.9:g.49506340C>G	NCBI36
NG_008607.2:g.51692C>G
NG_070230.1:g.56830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2814C>G	ENSP00000489147.2:p.Pro938=
ENST00000414786.7:n.3398C>G
ENST00000445220.7:c.1866C>G	ENSP00000489407.2:p.Pro622=
ENST00000664402.2:c.1356C>G	ENSP00000499475.1:p.Pro452=
ENST00000673971.2:c.*1812C>G	ENSP00000501192.1:n.*1812C>G
ENST00000445220.6:c.1866C>G	ENSP00000489407.2:p.Pro622=
ENST00000262795.6:c.2814C>G	ENSP00000489147.2:p.Pro938=
ENST00000664402.1:c.1356C>G	ENSP00000499475.1:p.Pro452=
ENST00000673971.1:c.*1812C>G	ENSP00000501192.1:n.*1812C>G
ENST00000262795.5:c.3210C>G	ENSP00000489147.1:p.Pro1070=
ENST00000414786.6:n.3398C>G
ENST00000445220.5:c.3192C>G	ENSP00000489407.1:p.Pro1064=