Canonical Allele Identifier: CA1898170530

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697891T= , CM000672.2:g.26697891T=	GRCh38
NC_000010.10:g.26986820T= , CM000672.1:g.26986820T=	GRCh37
NC_000010.9:g.27026826T=	NCBI36
NG_008972.1:g.5226T=
NG_008972.2:g.5226T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+51T= MANE Select	ENSP00000365388.5:n.129+51T=
ENST00000376215.9:c.129+51T=	ENSP00000365388.5:n.129+51T=
NM_014317.3:c.129+51T=	NP_055132.2:n.129+51T=
XR_428636.2:n.417+51T=
XR_930486.1:n.417+51T=
NM_001321978.1:c.129+51T=	NP_001308907.1:n.129+51T=
NM_001321979.1:c.-465+51T=	NP_001308908.1:n.-465+51T=
NM_014317.4:c.129+51T=	NP_055132.2:n.129+51T=
XM_024447922.1:c.129+51T=	XP_024303690.1:n.129+51T=
XR_428636.4:n.417+51T=
NM_014317.5:c.129+51T= MANE Select	NP_055132.2:n.129+51T=
NM_001321978.2:c.129+51T=	NP_001308907.1:n.129+51T=
NM_001321979.2:c.-465+51T=	NP_001308908.1:n.-465+51T=