Canonical Allele Identifier: CA376488812

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.26986663G>C (hg19) ; chr10:g.26697734G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697734G>C , CM000672.2:g.26697734G>C	GRCh38
NC_000010.10:g.26986663G>C , CM000672.1:g.26986663G>C	GRCh37
NC_000010.9:g.27026669G>C	NCBI36
NG_008972.1:g.5069G>C
NG_008972.2:g.5069G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.23G>C MANE Select	ENSP00000365388.5:p.Trp8Ser
ENST00000376215.9:c.23G>C	ENSP00000365388.5:p.Trp8Ser
NM_014317.3:c.23G>C	NP_055132.2:p.Trp8Ser
XR_428636.2:n.311G>C
XR_930486.1:n.311G>C
NM_001321978.1:c.23G>C	NP_001308907.1:p.Trp8Ser
NM_001321979.1:c.-571G>C	NP_001308908.1:n.-571G>C
NM_014317.4:c.23G>C	NP_055132.2:p.Trp8Ser
XM_024447922.1:c.23G>C	XP_024303690.1:p.Trp8Ser
XR_428636.4:n.311G>C
NM_014317.5:c.23G>C MANE Select	NP_055132.2:p.Trp8Ser
NM_001321978.2:c.23G>C	NP_001308907.1:p.Trp8Ser
NM_001321979.2:c.-571G>C	NP_001308908.1:n.-571G>C