Canonical Allele Identifier: CA522629144
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs1480371699
gnomAD v2: 1-47854557-C-A
gnomAD v3: 1-47388885-C-A
gnomAD v4: 1-47388885-C-A
MyVariant Identifiers: chr1:g.47854557C>A (hg19) chr1:g.47388885C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47388885C>A , CM000663.2:g.47388885C>A GRCh38
NC_000001.10:g.47854557C>A , CM000663.1:g.47854557C>A GRCh37
NC_000001.9:g.47627144C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699074.1:c.550-5396C>A (CMPK1) ENSP00000514113.1:n.550-5396C>A
NR_126355.1:n.405-2529G>T (LINC01389)
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