Canonical Allele Identifier: CA377489691
Gene: PAPSS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87727476A>T , CM000672.2:g.87727476A>T GRCh38
NC_000010.10:g.89487233A>T , CM000672.1:g.89487233A>T GRCh37
NC_000010.9:g.89477213A>T NCBI36
NG_012150.1:g.72758A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000456849.2:c.1073A>T MANE Select ENSP00000406157.1:p.His358Leu
ENST00000361175.8:c.1058A>T ENSP00000354436.4:p.His353Leu
ENST00000456849.1:c.1073A>T ENSP00000406157.1:p.His358Leu
NM_001015880.1:c.1073A>T NP_001015880.1:p.His358Leu
NM_004670.3:c.1058A>T NP_004661.2:p.His353Leu
NM_001015880.2:c.1073A>T MANE Select NP_001015880.1:p.His358Leu
NM_004670.4:c.1058A>T NP_004661.2:p.His353Leu