Canonical Allele Identifier: CA291686
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 137958
ClinVar RCV Id: RCV000126381 RCV000476035
dbSNP Id: rs62637689
ExAC: X:136649012 T / C
gnomAD v2: X-136649012-T-C
gnomAD v3: X-137566853-T-C
gnomAD v4: X-137566853-T-C
MyVariant Identifiers: chrX:g.136649012T>C (hg19) chrX:g.137566853T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566853T>C , CM000685.2:g.137566853T>C GRCh38
NC_000023.10:g.136649012T>C , CM000685.1:g.136649012T>C GRCh37
NC_000023.9:g.136476678T>C NCBI36
NG_008115.1:g.5667T>C
NG_008115.2:g.5727T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.162T>C MANE Select ENSP00000287538.5:p.Ala54=
ENST00000287538.9:c.162T>C ENSP00000287538.5:p.Ala54=
ENST00000370606.3:c.162T>C ENSP00000359638.3:p.Ala54=
NM_003413.3:c.162T>C NP_003404.1:p.Ala54=
NM_001330661.1:c.162T>C NP_001317590.1:p.Ala54=
NM_003413.4:c.162T>C MANE Select NP_003404.1:p.Ala54=
Search 100 bp 5'
Search 100 bp 3'