Canonical Allele Identifier: CA10529287
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1044413
ClinVar RCV Id: RCV001348649
dbSNP Id: rs373628598
ExAC: X:136649176 C / G
gnomAD v2: X-136649176-C-G
gnomAD v3: X-137567017-C-G
gnomAD v4: X-137567017-C-G
MyVariant Identifiers: chrX:g.136649176C>G (hg19) chrX:g.137567017C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567017C>G , CM000685.2:g.137567017C>G GRCh38
NC_000023.10:g.136649176C>G , CM000685.1:g.136649176C>G GRCh37
NC_000023.9:g.136476842C>G NCBI36
NG_008115.1:g.5831C>G
NG_008115.2:g.5891C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.326C>G MANE Select ENSP00000287538.5:p.Ser109Cys
ENST00000287538.9:c.326C>G ENSP00000287538.5:p.Ser109Cys
ENST00000370606.3:c.326C>G ENSP00000359638.3:p.Ser109Cys
NM_003413.3:c.326C>G NP_003404.1:p.Ser109Cys
NM_001330661.1:c.326C>G NP_001317590.1:p.Ser109Cys
NM_003413.4:c.326C>G MANE Select NP_003404.1:p.Ser109Cys
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