Canonical Allele Identifier: CA2517355635

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709947T>A , CM000672.2:g.26709947T>A	GRCh38
NC_000010.10:g.26998876T>A , CM000672.1:g.26998876T>A	GRCh37
NC_000010.9:g.27038882T>A	NCBI36
NG_008972.1:g.17282T>A
NG_008972.2:g.17282T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+179T>A MANE Select	ENSP00000365388.5:n.467+179T>A
ENST00000376215.9:c.467+179T>A	ENSP00000365388.5:n.467+179T>A
ENST00000473224.1:n.218+179T>A
NM_014317.3:c.467+179T>A	NP_055132.2:n.467+179T>A
XM_005252439.2:c.-127+179T>A	XP_005252496.1:n.-127+179T>A
XM_011519437.1:c.98+179T>A	XP_011517739.1:n.98+179T>A
XR_428636.2:n.755+179T>A
XR_930486.1:n.755+179T>A
NM_001321978.1:c.467+179T>A	NP_001308907.1:n.467+179T>A
NM_001321979.1:c.-127+179T>A	NP_001308908.1:n.-127+179T>A
NM_014317.4:c.467+179T>A	NP_055132.2:n.467+179T>A
XM_011519437.3:c.98+179T>A	XP_011517739.1:n.98+179T>A
XM_017016011.2:c.146+179T>A	XP_016871500.1:n.146+179T>A
XM_024447922.1:c.467+179T>A	XP_024303690.1:n.467+179T>A
XM_024447923.1:c.-127+179T>A	XP_024303691.1:n.-127+179T>A
XR_428636.4:n.755+179T>A
NM_014317.5:c.467+179T>A MANE Select	NP_055132.2:n.467+179T>A
NM_001321978.2:c.467+179T>A	NP_001308907.1:n.467+179T>A
NM_001321979.2:c.-127+179T>A	NP_001308908.1:n.-127+179T>A