Canonical Allele Identifier: CA22044398
Gene: CMPK1 HGNC NCBI
LINC01389 HGNC NCBI

Linked Data

dbSNP Id: rs6703935
gnomAD v2: 1-47854527-G-T
gnomAD v3: 1-47388855-G-T
gnomAD v4: 1-47388855-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47388855G>T , CM000663.2:g.47388855G>T GRCh38
NC_000001.10:g.47854527G>T , CM000663.1:g.47854527G>T GRCh37
NC_000001.9:g.47627114G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000699074.1:c.550-5426G>T (CMPK1) ENSP00000514113.1:n.550-5426G>T
NR_126355.1:n.405-2499C>A (LINC01389)