Canonical Allele Identifier: CA518857438
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3038703
ClinVar RCV Id: RCV003922109
dbSNP Id: rs1380540154
gnomAD v2: X-136649426-G-C
gnomAD v3: X-137567267-G-C
gnomAD v4: X-137567267-G-C
MyVariant Identifiers: chrX:g.136649426G>C (hg19) chrX:g.137567267G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567267G>C , CM000685.2:g.137567267G>C GRCh38
NC_000023.10:g.136649426G>C , CM000685.1:g.136649426G>C GRCh37
NC_000023.9:g.136477092G>C NCBI36
NG_008115.1:g.6081G>C
NG_008115.2:g.6141G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.576G>C MANE Select ENSP00000287538.5:p.Leu192=
ENST00000287538.9:c.576G>C ENSP00000287538.5:p.Leu192=
ENST00000370606.3:c.576G>C ENSP00000359638.3:p.Leu192=
NM_003413.3:c.576G>C NP_003404.1:p.Leu192=
NM_001330661.1:c.576G>C NP_001317590.1:p.Leu192=
NM_003413.4:c.576G>C MANE Select NP_003404.1:p.Leu192=
Search 100 bp 5'
Search 100 bp 3'