Canonical Allele Identifier: CA515255793

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50703893G>C , CM000684.2:g.50703893G>C	GRCh38
NC_000022.10:g.51142321G>C , CM000684.1:g.51142321G>C	GRCh37
NC_000022.9:g.49489187G>C	NCBI36
NG_008607.2:g.34539G>C
NG_070230.1:g.39758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.1643G>C	ENSP00000489147.1:p.Arg548Pro
ENST00000262795.6:c.1247G>C	ENSP00000489147.2:p.Arg416Pro
ENST00000262795.7:c.1247G>C	ENSP00000489147.2:p.Arg416Pro
ENST00000414786.6:n.1831G>C
ENST00000414786.7:n.1831G>C
ENST00000445220.5:c.1625G>C	ENSP00000489407.1:p.Arg542Pro
ENST00000445220.6:c.299G>C	ENSP00000489407.2:p.Arg100Pro
ENST00000445220.7:c.299G>C	ENSP00000489407.2:p.Arg100Pro
ENST00000673838.1:n.272G>C
ENST00000673971.1:c.1604G>C	ENSP00000501192.1:p.Arg535Pro
ENST00000673971.2:c.1604G>C	ENSP00000501192.1:p.Arg535Pro
ENST00000673995.1:c.499G>C
ENST00000674010.1:n.492G>C
ENST00000674145.1:n.839G>C