Canonical Allele Identifier: CA16621213
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 418553
ClinVar RCV Id: RCV000479375 RCV001856821
dbSNP Id: rs763534805
gnomAD v2: X-136648869-G-C
gnomAD v4: X-137566710-G-C
MyVariant Identifiers: chrX:g.136648869G>C (hg19) chrX:g.137566710G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137566710G>C , CM000685.2:g.137566710G>C GRCh38
NC_000023.10:g.136648869G>C , CM000685.1:g.136648869G>C GRCh37
NC_000023.9:g.136476535G>C NCBI36
NG_008115.1:g.5524G>C
NG_008115.2:g.5584G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287538.10:c.19G>C MANE Select ENSP00000287538.5:p.Gly7Arg
ENST00000287538.9:c.19G>C ENSP00000287538.5:p.Gly7Arg
ENST00000370606.3:c.19G>C ENSP00000359638.3:p.Gly7Arg
NM_003413.3:c.19G>C NP_003404.1:p.Gly7Arg
NM_001330661.1:c.19G>C NP_001317590.1:p.Gly7Arg
NM_003413.4:c.19G>C MANE Select NP_003404.1:p.Gly7Arg
Search 100 bp 5'
Search 100 bp 3'