Canonical Allele Identifier: CA1898160453

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723879T= , CM000672.2:g.26723879T=	GRCh38
NC_000010.10:g.27012808T= , CM000672.1:g.27012808T=	GRCh37
NC_000010.9:g.27052814T=	NCBI36
NG_008972.1:g.31214T=
NG_008972.2:g.31214T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.683T= MANE Select	ENSP00000365388.5:p.Ile228=
ENST00000376215.9:c.683T=	ENSP00000365388.5:p.Ile228=
ENST00000473224.1:n.517T=
ENST00000491711.5:c.91T=
NM_014317.3:c.683T=	NP_055132.2:p.Ile228=
XM_005252439.2:c.173T=	XP_005252496.1:p.Ile58=
XM_011519437.1:c.314T=	XP_011517739.1:p.Ile105=
XR_428636.2:n.971T=
XR_930486.1:n.971T=
NM_001321978.1:c.683T=	NP_001308907.1:p.Ile228=
NM_001321979.1:c.173T=	NP_001308908.1:p.Ile58=
NM_014317.4:c.683T=	NP_055132.2:p.Ile228=
XM_011519437.3:c.314T=	XP_011517739.1:p.Ile105=
XM_017016011.2:c.362T=	XP_016871500.1:p.Ile121=
XM_024447922.1:c.683T=	XP_024303690.1:p.Ile228=
XM_024447923.1:c.173T=	XP_024303691.1:p.Ile58=
XR_428636.4:n.971T=
NM_014317.5:c.683T= MANE Select	NP_055132.2:p.Ile228=
NM_001321978.2:c.683T=	NP_001308907.1:p.Ile228=
NM_001321979.2:c.173T=	NP_001308908.1:p.Ile58=