Canonical Allele Identifier: CA468484100
Gene: PDSS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.26746335T>C , CM000672.2:g.26746335T>C GRCh38
NC_000010.10:g.27035264T>C , CM000672.1:g.27035264T>C GRCh37
NC_000010.9:g.27075270T>C NCBI36
NG_008972.1:g.53670T>C
NG_030025.1:g.119753A>G
NG_008972.2:g.53670T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376215.10:c.1110T>C MANE Select ENSP00000365388.5:p.Ser370=
ENST00000376215.9:c.1110T>C ENSP00000365388.5:p.Ser370=
ENST00000470978.1:n.352T>C
ENST00000491711.5:c.691T>C
NM_014317.3:c.1110T>C NP_055132.2:p.Ser370=
XM_005252439.2:c.600T>C XP_005252496.1:p.Ser200=
XM_011519437.1:c.741T>C XP_011517739.1:p.Ser247=
XR_428636.2:n.1402T>C
NM_001321978.1:c.919T>C NP_001308907.1:p.Ter307Arg
NM_001321979.1:c.600T>C NP_001308908.1:p.Ser200=
NM_014317.4:c.1110T>C NP_055132.2:p.Ser370=
XM_011519437.3:c.741T>C XP_011517739.1:p.Ser247=
XM_017016011.2:c.789T>C XP_016871500.1:p.Ser263=
XM_024447923.1:c.600T>C XP_024303691.1:p.Ser200=
XR_428636.4:n.1402T>C
NM_014317.5:c.1110T>C MANE Select NP_055132.2:p.Ser370=
NM_001321978.2:c.919T>C NP_001308907.1:p.Ter307Arg
NM_001321979.2:c.600T>C NP_001308908.1:p.Ser200=