Canonical Allele Identifier: CA336368776
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1479398
ClinVar RCV Id: RCV001990940
dbSNP Id: rs960337313
gnomAD v3: X-137566942-C-G
gnomAD v4: X-137566942-C-G
MyVariant Identifiers: chrX:g.136649101C>G (hg19) chrX:g.137566942C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566942C>G , CM000685.2:g.137566942C>G GRCh38
NC_000023.10:g.136649101C>G , CM000685.1:g.136649101C>G GRCh37
NC_000023.9:g.136476767C>G NCBI36
NG_008115.1:g.5756C>G
NG_008115.2:g.5816C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.251C>G MANE Select ENSP00000287538.5:p.Ala84Gly
ENST00000287538.9:c.251C>G ENSP00000287538.5:p.Ala84Gly
ENST00000370606.3:c.251C>G ENSP00000359638.3:p.Ala84Gly
NM_003413.3:c.251C>G NP_003404.1:p.Ala84Gly
NM_001330661.1:c.251C>G NP_001317590.1:p.Ala84Gly
NM_003413.4:c.251C>G MANE Select NP_003404.1:p.Ala84Gly
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