Canonical Allele Identifier: CA10922568
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs17103191
gnomAD v2: 1-47854575-C-T
gnomAD v3: 1-47388903-C-T
gnomAD v4: 1-47388903-C-T
MyVariant Identifiers: chr1:g.47854575C>T (hg19) chr1:g.47388903C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47388903C>T , CM000663.2:g.47388903C>T GRCh38
NC_000001.10:g.47854575C>T , CM000663.1:g.47854575C>T GRCh37
NC_000001.9:g.47627162C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699074.1:c.550-5378C>T (CMPK1) ENSP00000514113.1:n.550-5378C>T
NR_126355.1:n.405-2547G>A (LINC01389)
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