Canonical Allele Identifier: CA468624841

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.26986742G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697813G>C , CM000672.2:g.26697813G>C	GRCh38
NC_000010.10:g.26986742G>C , CM000672.1:g.26986742G>C	GRCh37
NC_000010.9:g.27026748G>C	NCBI36
NG_008972.1:g.5148G>C
NG_008972.2:g.5148G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.102G>C MANE Select	ENSP00000365388.5:p.Pro34=
ENST00000376215.9:c.102G>C	ENSP00000365388.5:p.Pro34=
NM_014317.3:c.102G>C	NP_055132.2:p.Pro34=
XR_428636.2:n.390G>C
XR_930486.1:n.390G>C
NM_001321978.1:c.102G>C	NP_001308907.1:p.Pro34=
NM_001321979.1:c.-492G>C	NP_001308908.1:n.-492G>C
NM_014317.4:c.102G>C	NP_055132.2:p.Pro34=
XM_024447922.1:c.102G>C	XP_024303690.1:p.Pro34=
XR_428636.4:n.390G>C
NM_014317.5:c.102G>C MANE Select	NP_055132.2:p.Pro34=
NM_001321978.2:c.102G>C	NP_001308907.1:p.Pro34=
NM_001321979.2:c.-492G>C	NP_001308908.1:n.-492G>C