Canonical Allele Identifier: CA376488916

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.26986711G>C (hg19) ; chr10:g.26697782G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697782G>C , CM000672.2:g.26697782G>C	GRCh38
NC_000010.10:g.26986711G>C , CM000672.1:g.26986711G>C	GRCh37
NC_000010.9:g.27026717G>C	NCBI36
NG_008972.1:g.5117G>C
NG_008972.2:g.5117G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.71G>C MANE Select	ENSP00000365388.5:p.Gly24Ala
ENST00000376215.9:c.71G>C	ENSP00000365388.5:p.Gly24Ala
NM_014317.3:c.71G>C	NP_055132.2:p.Gly24Ala
XR_428636.2:n.359G>C
XR_930486.1:n.359G>C
NM_001321978.1:c.71G>C	NP_001308907.1:p.Gly24Ala
NM_001321979.1:c.-523G>C	NP_001308908.1:n.-523G>C
NM_014317.4:c.71G>C	NP_055132.2:p.Gly24Ala
XM_024447922.1:c.71G>C	XP_024303690.1:p.Gly24Ala
XR_428636.4:n.359G>C
NM_014317.5:c.71G>C MANE Select	NP_055132.2:p.Gly24Ala
NM_001321978.2:c.71G>C	NP_001308907.1:p.Gly24Ala
NM_001321979.2:c.-523G>C	NP_001308908.1:n.-523G>C