Canonical Allele Identifier: CA414769712
Gene: ZIC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3193565
ClinVar RCV Id: RCV004488862
MyVariant Identifiers: chrX:g.136649190T>C (hg19) chrX:g.137567031T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.137567031T>C , CM000685.2:g.137567031T>C GRCh38
NC_000023.10:g.136649190T>C , CM000685.1:g.136649190T>C GRCh37
NC_000023.9:g.136476856T>C NCBI36
NG_008115.1:g.5845T>C
NG_008115.2:g.5905T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287538.10:c.340T>C MANE Select ENSP00000287538.5:p.Ser114Pro
ENST00000287538.9:c.340T>C ENSP00000287538.5:p.Ser114Pro
ENST00000370606.3:c.340T>C ENSP00000359638.3:p.Ser114Pro
NM_003413.3:c.340T>C NP_003404.1:p.Ser114Pro
NM_001330661.1:c.340T>C NP_001317590.1:p.Ser114Pro
NM_003413.4:c.340T>C MANE Select NP_003404.1:p.Ser114Pro
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