Canonical Allele Identifier: CA377485333
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87709288C>A , CM000672.2:g.87709288C>A GRCh38
NC_000010.10:g.89469045C>A , CM000672.1:g.89469045C>A GRCh37
NC_000010.9:g.89459025C>A NCBI36
NG_012150.1:g.54570C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.120C>A MANE Select ENSP00000406157.1:p.Phe40Leu
ENST00000361175.8:c.120C>A ENSP00000354436.4:p.Phe40Leu
ENST00000456849.1:c.120C>A ENSP00000406157.1:p.Phe40Leu
ENST00000465996.5:n.142C>A
ENST00000482258.1:n.163C>A
NM_001015880.1:c.120C>A NP_001015880.1:p.Phe40Leu
NM_004670.3:c.120C>A NP_004661.2:p.Phe40Leu
NM_001015880.2:c.120C>A MANE Select NP_001015880.1:p.Phe40Leu
NM_004670.4:c.120C>A NP_004661.2:p.Phe40Leu