Canonical Allele Identifier: CA2787041347

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709948T>C , CM000672.2:g.26709948T>C	GRCh38
NC_000010.10:g.26998877T>C , CM000672.1:g.26998877T>C	GRCh37
NC_000010.9:g.27038883T>C	NCBI36
NG_008972.1:g.17283T>C
NG_008972.2:g.17283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+180T>C MANE Select	ENSP00000365388.5:n.467+180T>C
ENST00000376215.9:c.467+180T>C	ENSP00000365388.5:n.467+180T>C
ENST00000473224.1:n.218+180T>C
NM_014317.3:c.467+180T>C	NP_055132.2:n.467+180T>C
XM_005252439.2:c.-127+180T>C	XP_005252496.1:n.-127+180T>C
XM_011519437.1:c.98+180T>C	XP_011517739.1:n.98+180T>C
XR_428636.2:n.755+180T>C
XR_930486.1:n.755+180T>C
NM_001321978.1:c.467+180T>C	NP_001308907.1:n.467+180T>C
NM_001321979.1:c.-127+180T>C	NP_001308908.1:n.-127+180T>C
NM_014317.4:c.467+180T>C	NP_055132.2:n.467+180T>C
XM_011519437.3:c.98+180T>C	XP_011517739.1:n.98+180T>C
XM_017016011.2:c.146+180T>C	XP_016871500.1:n.146+180T>C
XM_024447922.1:c.467+180T>C	XP_024303690.1:n.467+180T>C
XM_024447923.1:c.-127+180T>C	XP_024303691.1:n.-127+180T>C
XR_428636.4:n.755+180T>C
NM_014317.5:c.467+180T>C MANE Select	NP_055132.2:n.467+180T>C
NM_001321978.2:c.467+180T>C	NP_001308907.1:n.467+180T>C
NM_001321979.2:c.-127+180T>C	NP_001308908.1:n.-127+180T>C