Canonical Allele Identifier: CA50308728

Linked Data

dbSNP Id: rs891180735
gnomAD v3: 2-68653363-G-C
gnomAD v4: 2-68653363-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.68653363G>C , CM000664.2:g.68653363G>C GRCh38
NC_000002.11:g.68880495G>C , CM000664.1:g.68880495G>C GRCh37
NC_000002.10:g.68733999G>C NCBI36
NG_051312.1:g.14776G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000303786.5:c.486-1517G>C (PROKR1) MANE Select ENSP00000303775.4:n.486-1517G>C
ENST00000303786.4:c.486-1517G>C (PROKR1) ENSP00000303775.3:n.486-1517G>C
ENST00000394342.2:c.486-1517G>C (APLF) ENSP00000377874.2:n.486-1517G>C
ENST00000627740.1:n.1198-1517G>C (APLF)
NM_138964.2:c.486-1517G>C (PROKR1) NP_620414.1:n.486-1517G>C
NM_138964.3:c.486-1517G>C (PROKR1) NP_620414.1:n.486-1517G>C
NM_138964.4:c.486-1517G>C (PROKR1) MANE Select NP_620414.1:n.486-1517G>C