Canonical Allele Identifier: CA10529316
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2722011
ClinVar RCV Id: RCV003513304
dbSNP Id: rs778283887
ExAC: X:136649526 A / C
gnomAD v2: X-136649526-A-C
gnomAD v3: X-137567367-A-C
gnomAD v4: X-137567367-A-C
MyVariant Identifiers: chrX:g.136649526A>C (hg19) chrX:g.137567367A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567367A>C , CM000685.2:g.137567367A>C GRCh38
NC_000023.10:g.136649526A>C , CM000685.1:g.136649526A>C GRCh37
NC_000023.9:g.136477192A>C NCBI36
NG_008115.1:g.6181A>C
NG_008115.2:g.6241A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.676A>C MANE Select ENSP00000287538.5:p.Met226Leu
ENST00000287538.9:c.676A>C ENSP00000287538.5:p.Met226Leu
ENST00000370606.3:c.676A>C ENSP00000359638.3:p.Met226Leu
NM_003413.3:c.676A>C NP_003404.1:p.Met226Leu
NM_001330661.1:c.676A>C NP_001317590.1:p.Met226Leu
NM_003413.4:c.676A>C MANE Select NP_003404.1:p.Met226Leu
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