Canonical Allele Identifier: CA728722212

Linked Data

dbSNP Id: rs1471975215

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453290C>T , CM000663.2:g.186453290C>T GRCh38
NC_000001.10:g.186422422C>T , CM000663.1:g.186422422C>T GRCh37
NC_000001.9:g.184689045C>T NCBI36
NG_009101.1:g.12818G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3807G>A (PDC) MANE Select ENSP00000375855.2:n.-24-3807G>A
ENST00000391997.2:c.-24-3807G>A (PDC) ENSP00000375855.2:n.-24-3807G>A
NM_002597.4:c.-24-3807G>A (PDC) NP_002588.3:n.-24-3807G>A
NR_126002.1:n.441+2016C>T (PDC-AS1)
NM_002597.5:c.-24-3807G>A (PDC) MANE Select NP_002588.3:n.-24-3807G>A