Canonical Allele Identifier: CA1874720593
Gene: PAPPA HGNC NCBI
PAPPA-AS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116360063C>A , CM000671.2:g.116360063C>A GRCh38
NC_000009.11:g.119122342C>A , CM000671.1:g.119122342C>A GRCh37
NC_000009.10:g.118162163C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328252.4:c.4348-2529C>A (PAPPA) MANE Select ENSP00000330658.3:n.4348-2529C>A
ENST00000328252.3:c.4348-2529C>A (PAPPA) ENSP00000330658.3:n.4348-2529C>A
NM_002581.3:c.4348-2529C>A (PAPPA) NP_002572.2:n.4348-2529C>A
XM_006717129.1:c.2254-2529C>A (PAPPA) XP_006717192.1:n.2254-2529C>A
NM_002581.4:c.4348-2529C>A (PAPPA) NP_002572.2:n.4348-2529C>A
XM_006717129.3:c.2254-2529C>A (PAPPA) XP_006717192.1:n.2254-2529C>A
XM_017014784.2:c.4234-2529C>A (PAPPA) XP_016870273.1:n.4234-2529C>A
NM_002581.5:c.4348-2529C>A (PAPPA) MANE Select NP_002572.2:n.4348-2529C>A
NR_170222.1:n.80+3534G>T (PAPPA-AS2)