Canonical Allele Identifier: CA387532759

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23889217C>A , CM000675.2:g.23889217C>A GRCh38
NC_000013.10:g.24463356C>A , CM000675.1:g.24463356C>A GRCh37
NC_000013.9:g.23361356C>A NCBI36
NG_052977.1:g.5232G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382172.4:c.104G>T (MIPEP) MANE Select ENSP00000371607.3:p.Arg35Met
ENST00000382172.3:c.104G>T (MIPEP) ENSP00000371607.3:p.Arg35Met
ENST00000469167.1:n.182G>T (MIPEP)
NM_001014442.2:c.-186+206C>A (PCOTH) NP_001014442.2:n.-186+206C>A
NM_005932.3:c.104G>T (MIPEP) NP_005923.2:p.Arg35Met
XM_011535098.1:c.104G>T (MIPEP) XP_011533400.1:p.Arg35Met
NM_001014442.3:c.-186+206C>A (PCOTH) NP_001014442.2:n.-186+206C>A
XM_011535098.3:c.104G>T (MIPEP) XP_011533400.1:p.Arg35Met
NM_005932.4:c.104G>T (MIPEP) MANE Select NP_005923.3:p.Arg35Met
NM_001014442.4:c.-186+206C>A (PCOTH) NP_001014442.2:n.-186+206C>A
NR_172510.1:n.144+206C>A (PCOTH)