Canonical Allele Identifier: CA6913434

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23889136C>G , CM000675.2:g.23889136C>G GRCh38
NC_000013.10:g.24463275C>G , CM000675.1:g.24463275C>G GRCh37
NC_000013.9:g.23361275C>G NCBI36
NG_052977.1:g.5313G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382172.4:c.185G>C (MIPEP) MANE Select ENSP00000371607.3:p.Arg62Pro
ENST00000382172.3:c.185G>C (MIPEP) ENSP00000371607.3:p.Arg62Pro
ENST00000469167.1:n.263G>C (MIPEP)
NM_001014442.2:c.-186+125C>G (PCOTH) NP_001014442.2:n.-186+125C>G
NM_005932.3:c.185G>C (MIPEP) NP_005923.2:p.Arg62Pro
XM_011535098.1:c.185G>C (MIPEP) XP_011533400.1:p.Arg62Pro
NM_001014442.3:c.-186+125C>G (PCOTH) NP_001014442.2:n.-186+125C>G
XM_011535098.3:c.185G>C (MIPEP) XP_011533400.1:p.Arg62Pro
NM_005932.4:c.185G>C (MIPEP) MANE Select NP_005923.3:p.Arg62Pro
NM_001014442.4:c.-186+125C>G (PCOTH) NP_001014442.2:n.-186+125C>G
NR_172510.1:n.144+125C>G (PCOTH)