Canonical Allele Identifier: CA237613922
Gene: ZC3H10 HGNC NCBI
ESYT1 HGNC NCBI

Linked Data

dbSNP Id: rs181957129
gnomAD v2: 12-56518321-G-C
gnomAD v3: 12-56124537-G-C
gnomAD v4: 12-56124537-G-C
MyVariant Identifiers: chr12:g.56518321G>C (hg19) chr12:g.56518321_56518322delinsCA (hg19) chr12:g.56124537G>C (hg38) chr12:g.56124537_56124538delinsCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56124537G>C , CM000674.2:g.56124537G>C GRCh38
NC_000012.11:g.56518321G>C , CM000674.1:g.56518321G>C GRCh37
NC_000012.10:g.54804588G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000257940.7:c.*2670G>C (ZC3H10) MANE Select ENSP00000257940.2:n.*2670G>C
ENST00000257940.6:c.*2670G>C (ZC3H10) ENSP00000257940.2:n.*2670G>C
ENST00000551790.5:c.-143-4003G>C (ESYT1) ENSP00000447756.1:n.-143-4003G>C
NM_032786.3:c.*2670G>C (ZC3H10) MANE Select NP_116175.1:n.*2670G>C
NM_001303124.2:c.*2670G>C (ZC3H10) NP_001290053.1:n.*2670G>C
NM_001303125.2:c.*2670G>C (ZC3H10) NP_001290054.1:n.*2670G>C
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