Canonical Allele Identifier: CA376348246

Gene: PDSS1

Linked Data

• MyVariant Identifiers: chr10:g.27012807A>T (hg19) ; chr10:g.26723878A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723878A>T , CM000672.2:g.26723878A>T	GRCh38
NC_000010.10:g.27012807A>T , CM000672.1:g.27012807A>T	GRCh37
NC_000010.9:g.27052813A>T	NCBI36
NG_008972.1:g.31213A>T
NG_008972.2:g.31213A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.682A>T MANE Select	ENSP00000365388.5:p.Ile228Leu
ENST00000376215.9:c.682A>T	ENSP00000365388.5:p.Ile228Leu
ENST00000473224.1:n.516A>T
ENST00000491711.5:c.90A>T
NM_014317.3:c.682A>T	NP_055132.2:p.Ile228Leu
XM_005252439.2:c.172A>T	XP_005252496.1:p.Ile58Leu
XM_011519437.1:c.313A>T	XP_011517739.1:p.Ile105Leu
XR_428636.2:n.970A>T
XR_930486.1:n.970A>T
NM_001321978.1:c.682A>T	NP_001308907.1:p.Ile228Leu
NM_001321979.1:c.172A>T	NP_001308908.1:p.Ile58Leu
NM_014317.4:c.682A>T	NP_055132.2:p.Ile228Leu
XM_011519437.3:c.313A>T	XP_011517739.1:p.Ile105Leu
XM_017016011.2:c.361A>T	XP_016871500.1:p.Ile121Leu
XM_024447922.1:c.682A>T	XP_024303690.1:p.Ile228Leu
XM_024447923.1:c.172A>T	XP_024303691.1:p.Ile58Leu
XR_428636.4:n.970A>T
NM_014317.5:c.682A>T MANE Select	NP_055132.2:p.Ile228Leu
NM_001321978.2:c.682A>T	NP_001308907.1:p.Ile228Leu
NM_001321979.2:c.172A>T	NP_001308908.1:p.Ile58Leu