Canonical Allele Identifier: CA10529276
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2661527
ClinVar RCV Id: RCV003439929
dbSNP Id: rs1556029767
ExAC: X:136649009 C / T
gnomAD v2: X-136649009-C-T
gnomAD v4: X-137566850-C-T
COSMIC: COSM4970655 COSM4970656
MyVariant Identifiers: chrX:g.136649009C>T (hg19) chrX:g.136649009_136649012delinsTGCT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566850C>T , CM000685.2:g.137566850C>T GRCh38
NC_000023.10:g.136649009C>T , CM000685.1:g.136649009C>T GRCh37
NC_000023.9:g.136476675C>T NCBI36
NG_008115.1:g.5664C>T
NG_008115.2:g.5724C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.159C>T MANE Select ENSP00000287538.5:p.Ala53=
ENST00000287538.9:c.159C>T ENSP00000287538.5:p.Ala53=
ENST00000370606.3:c.159C>T ENSP00000359638.3:p.Ala53=
NM_003413.3:c.159C>T NP_003404.1:p.Ala53=
NM_001330661.1:c.159C>T NP_001317590.1:p.Ala53=
NM_003413.4:c.159C>T MANE Select NP_003404.1:p.Ala53=
Search 100 bp 5'
Search 100 bp 3'