Canonical Allele Identifier: CA1213147527

Linked Data

dbSNP Id: rs1662392419

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453399T>C , CM000663.2:g.186453399T>C GRCh38
NC_000001.10:g.186422531T>C , CM000663.1:g.186422531T>C GRCh37
NC_000001.9:g.184689154T>C NCBI36
NG_009101.1:g.12709A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3916A>G (PDC) MANE Select ENSP00000375855.2:n.-24-3916A>G
ENST00000391997.2:c.-24-3916A>G (PDC) ENSP00000375855.2:n.-24-3916A>G
NM_002597.4:c.-24-3916A>G (PDC) NP_002588.3:n.-24-3916A>G
NR_126002.1:n.441+2125T>C (PDC-AS1)
NM_002597.5:c.-24-3916A>G (PDC) MANE Select NP_002588.3:n.-24-3916A>G