Canonical Allele Identifier: CA376348144

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.27012772C>T (hg19) ; chr10:g.26723843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723843C>T , CM000672.2:g.26723843C>T	GRCh38
NC_000010.10:g.27012772C>T , CM000672.1:g.27012772C>T	GRCh37
NC_000010.9:g.27052778C>T	NCBI36
NG_008972.1:g.31178C>T
NG_008972.2:g.31178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.647C>T MANE Select	ENSP00000365388.5:p.Ser216Phe
ENST00000376215.9:c.647C>T	ENSP00000365388.5:p.Ser216Phe
ENST00000473224.1:n.481C>T
ENST00000491711.5:c.55C>T
NM_014317.3:c.647C>T	NP_055132.2:p.Ser216Phe
XM_005252439.2:c.137C>T	XP_005252496.1:p.Ser46Phe
XM_011519437.1:c.278C>T	XP_011517739.1:p.Ser93Phe
XR_428636.2:n.935C>T
XR_930486.1:n.935C>T
NM_001321978.1:c.647C>T	NP_001308907.1:p.Ser216Phe
NM_001321979.1:c.137C>T	NP_001308908.1:p.Ser46Phe
NM_014317.4:c.647C>T	NP_055132.2:p.Ser216Phe
XM_011519437.3:c.278C>T	XP_011517739.1:p.Ser93Phe
XM_017016011.2:c.326C>T	XP_016871500.1:p.Ser109Phe
XM_024447922.1:c.647C>T	XP_024303690.1:p.Ser216Phe
XM_024447923.1:c.137C>T	XP_024303691.1:p.Ser46Phe
XR_428636.4:n.935C>T
NM_014317.5:c.647C>T MANE Select	NP_055132.2:p.Ser216Phe
NM_001321978.2:c.647C>T	NP_001308907.1:p.Ser216Phe
NM_001321979.2:c.137C>T	NP_001308908.1:p.Ser46Phe