Canonical Allele Identifier: CA1213145672

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186448565T>A , CM000663.2:g.186448565T>A GRCh38
NC_000001.10:g.186417697T>A , CM000663.1:g.186417697T>A GRCh37
NC_000001.9:g.184684320T>A NCBI36
NG_009101.1:g.17543A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.61+834A>T (PDC) MANE Select ENSP00000375855.2:n.61+834A>T
ENST00000391997.2:c.61+834A>T (PDC) ENSP00000375855.2:n.61+834A>T
ENST00000497198.1:c.-96+63A>T (PDC) ENSP00000422775.1:n.-96+63A>T
NM_002597.4:c.61+834A>T (PDC) NP_002588.3:n.61+834A>T
NM_022576.3:c.-96+63A>T (PDC) NP_072098.1:n.-96+63A>T
NR_126002.1:n.346-2614T>A (PDC-AS1)
XM_011509603.1:c.61+834A>T (PDC) XP_011507905.1:n.61+834A>T
XM_011509603.2:c.61+834A>T (PDC) XP_011507905.1:n.61+834A>T
NM_002597.5:c.61+834A>T (PDC) MANE Select NP_002588.3:n.61+834A>T
NM_022576.4:c.-96+63A>T (PDC) NP_072098.1:n.-96+63A>T