Canonical Allele Identifier: CA515255217

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697693-G-C
• MyVariant Identifiers: chr22:g.51136121G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697693G>C , CM000684.2:g.50697693G>C	GRCh38
NC_000022.10:g.51136121G>C , CM000684.1:g.51136121G>C	GRCh37
NC_000022.9:g.49482987G>C	NCBI36
NG_008607.2:g.28339G>C
NG_070230.1:g.33558G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1077G>C	ENSP00000489147.2:p.Leu359=
ENST00000414786.7:n.1661G>C
ENST00000445220.7:c.129G>C	ENSP00000489407.2:p.Leu43=
ENST00000673971.2:c.1434G>C	ENSP00000501192.1:p.Leu478=
ENST00000445220.6:c.129G>C	ENSP00000489407.2:p.Leu43=
ENST00000262795.6:c.1077G>C	ENSP00000489147.2:p.Leu359=
ENST00000673971.1:c.1434G>C	ENSP00000501192.1:p.Leu478=
ENST00000673995.1:c.130G>C
ENST00000262795.5:c.1473G>C	ENSP00000489147.1:p.Leu491=
ENST00000414786.6:n.1661G>C
ENST00000445220.5:c.1455G>C	ENSP00000489407.1:p.Leu485=