Canonical Allele Identifier: CA728722276

Linked Data

dbSNP Id: rs1391546303

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453336G>C , CM000663.2:g.186453336G>C GRCh38
NC_000001.10:g.186422468G>C , CM000663.1:g.186422468G>C GRCh37
NC_000001.9:g.184689091G>C NCBI36
NG_009101.1:g.12772C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3853C>G (PDC) MANE Select ENSP00000375855.2:n.-24-3853C>G
ENST00000391997.2:c.-24-3853C>G (PDC) ENSP00000375855.2:n.-24-3853C>G
NM_002597.4:c.-24-3853C>G (PDC) NP_002588.3:n.-24-3853C>G
NR_126002.1:n.441+2062G>C (PDC-AS1)
NM_002597.5:c.-24-3853C>G (PDC) MANE Select NP_002588.3:n.-24-3853C>G