Canonical Allele Identifier: CA10529282
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 497977
ClinVar RCV Id: RCV000591132 RCV001511525
dbSNP Id: rs369721947
ExAC: X:136649120 C / T
gnomAD v2: X-136649120-C-T
gnomAD v3: X-137566961-C-T
gnomAD v4: X-137566961-C-T
MyVariant Identifiers: chrX:g.136649120C>T (hg19) chrX:g.137566961C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566961C>T , CM000685.2:g.137566961C>T GRCh38
NC_000023.10:g.136649120C>T , CM000685.1:g.136649120C>T GRCh37
NC_000023.9:g.136476786C>T NCBI36
NG_008115.1:g.5775C>T
NG_008115.2:g.5835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.270C>T MANE Select ENSP00000287538.5:p.His90=
ENST00000287538.9:c.270C>T ENSP00000287538.5:p.His90=
ENST00000370606.3:c.270C>T ENSP00000359638.3:p.His90=
NM_003413.3:c.270C>T NP_003404.1:p.His90=
NM_001330661.1:c.270C>T NP_001317590.1:p.His90=
NM_003413.4:c.270C>T MANE Select NP_003404.1:p.His90=
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