Canonical Allele Identifier: CA237613936
Gene: ZC3H10 HGNC NCBI
ESYT1 HGNC NCBI

Linked Data

dbSNP Id: rs889742016
gnomAD v3: 12-56124575-C-T
gnomAD v4: 12-56124575-C-T
MyVariant Identifiers: chr12:g.56518359C>T (hg19) chr12:g.56124575C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56124575C>T , CM000674.2:g.56124575C>T GRCh38
NC_000012.11:g.56518359C>T , CM000674.1:g.56518359C>T GRCh37
NC_000012.10:g.54804626C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000257940.7:c.*2708C>T (ZC3H10) MANE Select ENSP00000257940.2:n.*2708C>T
ENST00000257940.6:c.*2708C>T (ZC3H10) ENSP00000257940.2:n.*2708C>T
ENST00000551790.5:c.-143-3965C>T (ESYT1) ENSP00000447756.1:n.-143-3965C>T
NM_032786.3:c.*2708C>T (ZC3H10) MANE Select NP_116175.1:n.*2708C>T
NM_001303124.2:c.*2708C>T (ZC3H10) NP_001290053.1:n.*2708C>T
NM_001303125.2:c.*2708C>T (ZC3H10) NP_001290054.1:n.*2708C>T
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