Canonical Allele Identifier: CA515254616
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1418374841
gnomAD v4: 22-50697529-G-C
MyVariant Identifiers: chr22:g.51135957G>C (hg19) chr22:g.50697529G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697529G>C , CM000684.2:g.50697529G>C GRCh38
NC_000022.10:g.51135957G>C , CM000684.1:g.51135957G>C GRCh37
NC_000022.9:g.49482823G>C NCBI36
NG_008607.2:g.27888G>C
NG_070230.1:g.33107G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-35G>C ENSP00000489147.2:n.948-35G>C
ENST00000414786.7:n.1532-35G>C
ENST00000673971.2:c.1305-35G>C ENSP00000501192.1:n.1305-35G>C
ENST00000262795.6:c.948-35G>C ENSP00000489147.2:n.948-35G>C
ENST00000673971.1:c.1305-35G>C ENSP00000501192.1:n.1305-35G>C
ENST00000262795.5:c.1345-36G>C ENSP00000489147.1:n.1345-36G>C
ENST00000414786.6:n.1532-35G>C
ENST00000445220.5:c.1326-35G>C ENSP00000489407.1:n.1326-35G>C
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