Canonical Allele Identifier: CA376348094

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.27012748G>C (hg19) ; chr10:g.26723819G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723819G>C , CM000672.2:g.26723819G>C	GRCh38
NC_000010.10:g.27012748G>C , CM000672.1:g.27012748G>C	GRCh37
NC_000010.9:g.27052754G>C	NCBI36
NG_008972.1:g.31154G>C
NG_008972.2:g.31154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.623G>C MANE Select	ENSP00000365388.5:p.Gly208Ala
ENST00000376215.9:c.623G>C	ENSP00000365388.5:p.Gly208Ala
ENST00000473224.1:n.457G>C
ENST00000491711.5:c.31G>C
NM_014317.3:c.623G>C	NP_055132.2:p.Gly208Ala
XM_005252439.2:c.113G>C	XP_005252496.1:p.Gly38Ala
XM_011519437.1:c.254G>C	XP_011517739.1:p.Gly85Ala
XR_428636.2:n.911G>C
XR_930486.1:n.911G>C
NM_001321978.1:c.623G>C	NP_001308907.1:p.Gly208Ala
NM_001321979.1:c.113G>C	NP_001308908.1:p.Gly38Ala
NM_014317.4:c.623G>C	NP_055132.2:p.Gly208Ala
XM_011519437.3:c.254G>C	XP_011517739.1:p.Gly85Ala
XM_017016011.2:c.302G>C	XP_016871500.1:p.Gly101Ala
XM_024447922.1:c.623G>C	XP_024303690.1:p.Gly208Ala
XM_024447923.1:c.113G>C	XP_024303691.1:p.Gly38Ala
XR_428636.4:n.911G>C
NM_014317.5:c.623G>C MANE Select	NP_055132.2:p.Gly208Ala
NM_001321978.2:c.623G>C	NP_001308907.1:p.Gly208Ala
NM_001321979.2:c.113G>C	NP_001308908.1:p.Gly38Ala