Canonical Allele Identifier: CA468482754

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.27012782G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723853G>C , CM000672.2:g.26723853G>C	GRCh38
NC_000010.10:g.27012782G>C , CM000672.1:g.27012782G>C	GRCh37
NC_000010.9:g.27052788G>C	NCBI36
NG_008972.1:g.31188G>C
NG_008972.2:g.31188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.657G>C MANE Select	ENSP00000365388.5:p.Leu219=
ENST00000376215.9:c.657G>C	ENSP00000365388.5:p.Leu219=
ENST00000473224.1:n.491G>C
ENST00000491711.5:c.65G>C
NM_014317.3:c.657G>C	NP_055132.2:p.Leu219=
XM_005252439.2:c.147G>C	XP_005252496.1:p.Leu49=
XM_011519437.1:c.288G>C	XP_011517739.1:p.Leu96=
XR_428636.2:n.945G>C
XR_930486.1:n.945G>C
NM_001321978.1:c.657G>C	NP_001308907.1:p.Leu219=
NM_001321979.1:c.147G>C	NP_001308908.1:p.Leu49=
NM_014317.4:c.657G>C	NP_055132.2:p.Leu219=
XM_011519437.3:c.288G>C	XP_011517739.1:p.Leu96=
XM_017016011.2:c.336G>C	XP_016871500.1:p.Leu112=
XM_024447922.1:c.657G>C	XP_024303690.1:p.Leu219=
XM_024447923.1:c.147G>C	XP_024303691.1:p.Leu49=
XR_428636.4:n.945G>C
NM_014317.5:c.657G>C MANE Select	NP_055132.2:p.Leu219=
NM_001321978.2:c.657G>C	NP_001308907.1:p.Leu219=
NM_001321979.2:c.147G>C	NP_001308908.1:p.Leu49=