Canonical Allele Identifier: CA376489006

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697829-G-C
• MyVariant Identifiers: chr10:g.26986758G>C (hg19) ; chr10:g.26697829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697829G>C , CM000672.2:g.26697829G>C	GRCh38
NC_000010.10:g.26986758G>C , CM000672.1:g.26986758G>C	GRCh37
NC_000010.9:g.27026764G>C	NCBI36
NG_008972.1:g.5164G>C
NG_008972.2:g.5164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.118G>C MANE Select	ENSP00000365388.5:p.Val40Leu
ENST00000376215.9:c.118G>C	ENSP00000365388.5:p.Val40Leu
NM_014317.3:c.118G>C	NP_055132.2:p.Val40Leu
XR_428636.2:n.406G>C
XR_930486.1:n.406G>C
NM_001321978.1:c.118G>C	NP_001308907.1:p.Val40Leu
NM_001321979.1:c.-476G>C	NP_001308908.1:n.-476G>C
NM_014317.4:c.118G>C	NP_055132.2:p.Val40Leu
XM_024447922.1:c.118G>C	XP_024303690.1:p.Val40Leu
XR_428636.4:n.406G>C
NM_014317.5:c.118G>C MANE Select	NP_055132.2:p.Val40Leu
NM_001321978.2:c.118G>C	NP_001308907.1:p.Val40Leu
NM_001321979.2:c.-476G>C	NP_001308908.1:n.-476G>C