Canonical Allele Identifier: CA728722230

Linked Data

dbSNP Id: rs1331136880

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453308A>G , CM000663.2:g.186453308A>G GRCh38
NC_000001.10:g.186422440A>G , CM000663.1:g.186422440A>G GRCh37
NC_000001.9:g.184689063A>G NCBI36
NG_009101.1:g.12800T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3825T>C (PDC) MANE Select ENSP00000375855.2:n.-24-3825T>C
ENST00000391997.2:c.-24-3825T>C (PDC) ENSP00000375855.2:n.-24-3825T>C
NM_002597.4:c.-24-3825T>C (PDC) NP_002588.3:n.-24-3825T>C
NR_126002.1:n.441+2034A>G (PDC-AS1)
NM_002597.5:c.-24-3825T>C (PDC) MANE Select NP_002588.3:n.-24-3825T>C