Canonical Allele Identifier: CA736337587
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs1195010102
gnomAD v3: 1-47388755-T-C
gnomAD v4: 1-47388755-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47388755T>C , CM000663.2:g.47388755T>C GRCh38
NC_000001.10:g.47854427T>C , CM000663.1:g.47854427T>C GRCh37
NC_000001.9:g.47627014T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000699074.1:c.550-5526T>C (CMPK1) ENSP00000514113.1:n.550-5526T>C
NR_126355.1:n.405-2399A>G (LINC01389)