Canonical Allele Identifier: CA2599979147

Linked Data

gnomAD v3: 2-68653379-T-C
gnomAD v4: 2-68653379-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68653379T>C , CM000664.2:g.68653379T>C GRCh38
NC_000002.11:g.68880511T>C , CM000664.1:g.68880511T>C GRCh37
NC_000002.10:g.68734015T>C NCBI36
NG_051312.1:g.14792T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303786.5:c.486-1501T>C (PROKR1) MANE Select ENSP00000303775.4:n.486-1501T>C
ENST00000303786.4:c.486-1501T>C (PROKR1) ENSP00000303775.3:n.486-1501T>C
ENST00000394342.2:c.486-1501T>C (APLF) ENSP00000377874.2:n.486-1501T>C
ENST00000627740.1:n.1198-1501T>C (APLF)
NM_138964.2:c.486-1501T>C (PROKR1) NP_620414.1:n.486-1501T>C
NM_138964.3:c.486-1501T>C (PROKR1) NP_620414.1:n.486-1501T>C
NM_138964.4:c.486-1501T>C (PROKR1) MANE Select NP_620414.1:n.486-1501T>C