Canonical Allele Identifier: CA1001385369
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs1646766253
gnomAD v3: 1-47388868-T-A
gnomAD v4: 1-47388868-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47388868T>A , CM000663.2:g.47388868T>A GRCh38
NC_000001.10:g.47854540T>A , CM000663.1:g.47854540T>A GRCh37
NC_000001.9:g.47627127T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699074.1:c.550-5413T>A (CMPK1) ENSP00000514113.1:n.550-5413T>A
NR_126355.1:n.405-2512A>T (LINC01389)