Canonical Allele Identifier: CA204403749

Gene: PDSS1

Linked Data

• dbSNP Id: rs929520314
• gnomAD v2: 10-27012660-A-C
• gnomAD v3: 10-26723731-A-C
• gnomAD v4: 10-26723731-A-C
• MyVariant Identifiers: chr10:g.27012660A>C (hg19) ; chr10:g.26723731A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723731A>C , CM000672.2:g.26723731A>C	GRCh38
NC_000010.10:g.27012660A>C , CM000672.1:g.27012660A>C	GRCh37
NC_000010.9:g.27052666A>C	NCBI36
NG_008972.1:g.31066A>C
NG_008972.2:g.31066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.610-75A>C MANE Select	ENSP00000365388.5:n.610-75A>C
ENST00000376215.9:c.610-75A>C	ENSP00000365388.5:n.610-75A>C
ENST00000473224.1:n.444-75A>C
ENST00000491711.5:c.18-75A>C
NM_014317.3:c.610-75A>C	NP_055132.2:n.610-75A>C
XM_005252439.2:c.100-75A>C	XP_005252496.1:n.100-75A>C
XM_011519437.1:c.241-75A>C	XP_011517739.1:n.241-75A>C
XR_428636.2:n.898-75A>C
XR_930486.1:n.898-75A>C
NM_001321978.1:c.610-75A>C	NP_001308907.1:n.610-75A>C
NM_001321979.1:c.100-75A>C	NP_001308908.1:n.100-75A>C
NM_014317.4:c.610-75A>C	NP_055132.2:n.610-75A>C
XM_011519437.3:c.241-75A>C	XP_011517739.1:n.241-75A>C
XM_017016011.2:c.289-75A>C	XP_016871500.1:n.289-75A>C
XM_024447922.1:c.610-75A>C	XP_024303690.1:n.610-75A>C
XM_024447923.1:c.100-75A>C	XP_024303691.1:n.100-75A>C
XR_428636.4:n.898-75A>C
NM_014317.5:c.610-75A>C MANE Select	NP_055132.2:n.610-75A>C
NM_001321978.2:c.610-75A>C	NP_001308907.1:n.610-75A>C
NM_001321979.2:c.100-75A>C	NP_001308908.1:n.100-75A>C