Canonical Allele Identifier: CA376348203

Gene: PDSS1

Linked Data

• COSMIC: COSM395414
• MyVariant Identifiers: chr10:g.27012796A>G (hg19) ; chr10:g.26723867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723867A>G , CM000672.2:g.26723867A>G	GRCh38
NC_000010.10:g.27012796A>G , CM000672.1:g.27012796A>G	GRCh37
NC_000010.9:g.27052802A>G	NCBI36
NG_008972.1:g.31202A>G
NG_008972.2:g.31202A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.671A>G MANE Select	ENSP00000365388.5:p.Asn224Ser
ENST00000376215.9:c.671A>G	ENSP00000365388.5:p.Asn224Ser
ENST00000473224.1:n.505A>G
ENST00000491711.5:c.79A>G
NM_014317.3:c.671A>G	NP_055132.2:p.Asn224Ser
XM_005252439.2:c.161A>G	XP_005252496.1:p.Asn54Ser
XM_011519437.1:c.302A>G	XP_011517739.1:p.Asn101Ser
XR_428636.2:n.959A>G
XR_930486.1:n.959A>G
NM_001321978.1:c.671A>G	NP_001308907.1:p.Asn224Ser
NM_001321979.1:c.161A>G	NP_001308908.1:p.Asn54Ser
NM_014317.4:c.671A>G	NP_055132.2:p.Asn224Ser
XM_011519437.3:c.302A>G	XP_011517739.1:p.Asn101Ser
XM_017016011.2:c.350A>G	XP_016871500.1:p.Asn117Ser
XM_024447922.1:c.671A>G	XP_024303690.1:p.Asn224Ser
XM_024447923.1:c.161A>G	XP_024303691.1:p.Asn54Ser
XR_428636.4:n.959A>G
NM_014317.5:c.671A>G MANE Select	NP_055132.2:p.Asn224Ser
NM_001321978.2:c.671A>G	NP_001308907.1:p.Asn224Ser
NM_001321979.2:c.161A>G	NP_001308908.1:p.Asn54Ser