Canonical Allele Identifier: CA22044506
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs983404391
gnomAD v2: 1-47854676-A-T
gnomAD v3: 1-47389004-A-T
gnomAD v4: 1-47389004-A-T
MyVariant Identifiers: chr1:g.47854676A>T (hg19) chr1:g.47389004A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47389004A>T , CM000663.2:g.47389004A>T GRCh38
NC_000001.10:g.47854676A>T , CM000663.1:g.47854676A>T GRCh37
NC_000001.9:g.47627263A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000699074.1:c.550-5277A>T (CMPK1) ENSP00000514113.1:n.550-5277A>T
NR_126355.1:n.405-2648T>A (LINC01389)
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