Canonical Allele Identifier: CA1213147546

Linked Data

dbSNP Id: rs1662393419

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453442A>G , CM000663.2:g.186453442A>G GRCh38
NC_000001.10:g.186422574A>G , CM000663.1:g.186422574A>G GRCh37
NC_000001.9:g.184689197A>G NCBI36
NG_009101.1:g.12666T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3959T>C (PDC) MANE Select ENSP00000375855.2:n.-24-3959T>C
ENST00000391997.2:c.-24-3959T>C (PDC) ENSP00000375855.2:n.-24-3959T>C
NM_002597.4:c.-24-3959T>C (PDC) NP_002588.3:n.-24-3959T>C
NR_126002.1:n.441+2168A>G (PDC-AS1)
NM_002597.5:c.-24-3959T>C (PDC) MANE Select NP_002588.3:n.-24-3959T>C