Canonical Allele Identifier: CA292766

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26720290T>C , CM000672.2:g.26720290T>C	GRCh38
NC_000010.10:g.27009219T>C , CM000672.1:g.27009219T>C	GRCh37
NC_000010.9:g.27049225T>C	NCBI36
NG_008972.1:g.27625T>C
NG_008972.2:g.27625T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014317.5:c.540T>C MANE Select	NP_055132.2:p.Asp180=
ENST00000376215.10:c.540T>C MANE Select	ENSP00000365388.5:p.Asp180=
NM_001321978.1:c.540T>C	NP_001308907.1:p.Asp180=
NM_001321978.2:c.540T>C	NP_001308907.1:p.Asp180=
NM_001321979.1:c.30T>C	NP_001308908.1:p.Asp10=
NM_001321979.2:c.30T>C	NP_001308908.1:p.Asp10=
NM_014317.3:c.540T>C	NP_055132.2:p.Asp180=
NM_014317.4:c.540T>C	NP_055132.2:p.Asp180=
ENST00000376215.9:c.540T>C	ENSP00000365388.5:p.Asp180=
ENST00000473224.1:n.374T>C
XM_005252439.2:c.30T>C	XP_005252496.1:p.Asp10=
XM_011519437.1:c.171T>C	XP_011517739.1:p.Asp57=
XM_011519437.3:c.171T>C	XP_011517739.1:p.Asp57=
XM_017016011.2:c.219T>C	XP_016871500.1:p.Asp73=
XM_024447922.1:c.540T>C	XP_024303690.1:p.Asp180=
XM_024447923.1:c.30T>C	XP_024303691.1:p.Asp10=
XR_428636.2:n.828T>C
XR_428636.4:n.828T>C
XR_930486.1:n.828T>C