Canonical Allele Identifier: CA468482708
Gene: PDSS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.27012758T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26723829T>A , CM000672.2:g.26723829T>A GRCh38
NC_000010.10:g.27012758T>A , CM000672.1:g.27012758T>A GRCh37
NC_000010.9:g.27052764T>A NCBI36
NG_008972.1:g.31164T>A
NG_008972.2:g.31164T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376215.10:c.633T>A MANE Select ENSP00000365388.5:p.Ile211=
ENST00000376215.9:c.633T>A ENSP00000365388.5:p.Ile211=
ENST00000473224.1:n.467T>A
ENST00000491711.5:c.41T>A
NM_014317.3:c.633T>A NP_055132.2:p.Ile211=
XM_005252439.2:c.123T>A XP_005252496.1:p.Ile41=
XM_011519437.1:c.264T>A XP_011517739.1:p.Ile88=
XR_428636.2:n.921T>A
XR_930486.1:n.921T>A
NM_001321978.1:c.633T>A NP_001308907.1:p.Ile211=
NM_001321979.1:c.123T>A NP_001308908.1:p.Ile41=
NM_014317.4:c.633T>A NP_055132.2:p.Ile211=
XM_011519437.3:c.264T>A XP_011517739.1:p.Ile88=
XM_017016011.2:c.312T>A XP_016871500.1:p.Ile104=
XM_024447922.1:c.633T>A XP_024303690.1:p.Ile211=
XM_024447923.1:c.123T>A XP_024303691.1:p.Ile41=
XR_428636.4:n.921T>A
NM_014317.5:c.633T>A MANE Select NP_055132.2:p.Ile211=
NM_001321978.2:c.633T>A NP_001308907.1:p.Ile211=
NM_001321979.2:c.123T>A NP_001308908.1:p.Ile41=