Canonical Allele Identifier: CA2608597122
Gene: PDSS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26723767T>A , CM000672.2:g.26723767T>A GRCh38
NC_000010.10:g.27012696T>A , CM000672.1:g.27012696T>A GRCh37
NC_000010.9:g.27052702T>A NCBI36
NG_008972.1:g.31102T>A
NG_008972.2:g.31102T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376215.10:c.610-39T>A MANE Select ENSP00000365388.5:n.610-39T>A
ENST00000376215.9:c.610-39T>A ENSP00000365388.5:n.610-39T>A
ENST00000473224.1:n.444-39T>A
ENST00000491711.5:c.18-39T>A
NM_014317.3:c.610-39T>A NP_055132.2:n.610-39T>A
XM_005252439.2:c.100-39T>A XP_005252496.1:n.100-39T>A
XM_011519437.1:c.241-39T>A XP_011517739.1:n.241-39T>A
XR_428636.2:n.898-39T>A
XR_930486.1:n.898-39T>A
NM_001321978.1:c.610-39T>A NP_001308907.1:n.610-39T>A
NM_001321979.1:c.100-39T>A NP_001308908.1:n.100-39T>A
NM_014317.4:c.610-39T>A NP_055132.2:n.610-39T>A
XM_011519437.3:c.241-39T>A XP_011517739.1:n.241-39T>A
XM_017016011.2:c.289-39T>A XP_016871500.1:n.289-39T>A
XM_024447922.1:c.610-39T>A XP_024303690.1:n.610-39T>A
XM_024447923.1:c.100-39T>A XP_024303691.1:n.100-39T>A
XR_428636.4:n.898-39T>A
NM_014317.5:c.610-39T>A MANE Select NP_055132.2:n.610-39T>A
NM_001321978.2:c.610-39T>A NP_001308907.1:n.610-39T>A
NM_001321979.2:c.100-39T>A NP_001308908.1:n.100-39T>A