Canonical Allele Identifier: CA515260696

Gene: SHANK3

Linked Data

• MyVariant Identifiers: chr22:g.51159358G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720930G>C , CM000684.2:g.50720930G>C	GRCh38
NC_000022.10:g.51159358G>C , CM000684.1:g.51159358G>C	GRCh37
NC_000022.9:g.49506224G>C	NCBI36
NG_008607.2:g.51576G>C
NG_070230.1:g.56714G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2698G>C	ENSP00000489147.2:p.Gly900Arg
ENST00000414786.7:n.3282G>C
ENST00000445220.7:c.1750G>C	ENSP00000489407.2:p.Gly584Arg
ENST00000664402.2:c.1240G>C	ENSP00000499475.1:p.Gly414Arg
ENST00000673971.2:c.*1696G>C	ENSP00000501192.1:n.*1696G>C
ENST00000445220.6:c.1750G>C	ENSP00000489407.2:p.Gly584Arg
ENST00000262795.6:c.2698G>C	ENSP00000489147.2:p.Gly900Arg
ENST00000664402.1:c.1240G>C	ENSP00000499475.1:p.Gly414Arg
ENST00000673971.1:c.*1696G>C	ENSP00000501192.1:n.*1696G>C
ENST00000262795.5:c.3094G>C	ENSP00000489147.1:p.Gly1032Arg
ENST00000414786.6:n.3282G>C
ENST00000445220.5:c.3076G>C	ENSP00000489407.1:p.Gly1026Arg