Canonical Allele Identifier: CA10325991

Gene: SHANK3

Linked Data

• dbSNP Id: rs781414826
• ExAC: 22:51159519 G / C
• gnomAD v2: 22-51159519-G-C
• gnomAD v4: 22-50721091-G-C
• MyVariant Identifiers: chr22:g.51159519G>C (hg19) ; chr22:g.50721091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721091G>C , CM000684.2:g.50721091G>C	GRCh38
NC_000022.10:g.51159519G>C , CM000684.1:g.51159519G>C	GRCh37
NC_000022.9:g.49506385G>C	NCBI36
NG_008607.2:g.51737G>C
NG_070230.1:g.56875G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2859G>C	ENSP00000489147.2:p.Leu953=
ENST00000414786.7:n.3443G>C
ENST00000445220.7:c.1911G>C	ENSP00000489407.2:p.Leu637=
ENST00000664402.2:c.1401G>C	ENSP00000499475.1:p.Leu467=
ENST00000673971.2:c.*1857G>C	ENSP00000501192.1:n.*1857G>C
ENST00000445220.6:c.1911G>C	ENSP00000489407.2:p.Leu637=
ENST00000262795.6:c.2859G>C	ENSP00000489147.2:p.Leu953=
ENST00000664402.1:c.1401G>C	ENSP00000499475.1:p.Leu467=
ENST00000673971.1:c.*1857G>C	ENSP00000501192.1:n.*1857G>C
ENST00000262795.5:c.3255G>C	ENSP00000489147.1:p.Leu1085=
ENST00000414786.6:n.3443G>C
ENST00000445220.5:c.3237G>C	ENSP00000489407.1:p.Leu1079=