Canonical Allele Identifier: CA364431205

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523997C>T (hg19) ; chr6:g.51659199C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659199C>T , CM000668.2:g.51659199C>T	GRCh38
NC_000006.11:g.51523997C>T , CM000668.1:g.51523997C>T	GRCh37
NC_000006.10:g.51631956C>T	NCBI36
NG_008753.1:g.433427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10927G>A MANE Select	ENSP00000360158.3:p.Glu3643Lys
ENST00000371117.7:c.10927G>A	ENSP00000360158.3:p.Glu3643Lys
NM_138694.3:c.10927G>A	NP_619639.3:p.Glu3643Lys
XM_011514679.1:c.10927G>A	XP_011512981.1:p.Glu3643Lys
XM_011514680.1:c.10927G>A	XP_011512982.1:p.Glu3643Lys
XM_011514681.1:c.10798G>A	XP_011512983.1:p.Glu3600Lys
XM_011514682.1:c.10789G>A	XP_011512984.1:p.Glu3597Lys
XM_011514683.1:c.10285G>A	XP_011512985.1:p.Glu3429Lys
XM_011514684.1:c.10216G>A	XP_011512986.1:p.Glu3406Lys
XM_011514687.1:c.10157-9979G>A	XP_011512989.1:n.10157-9979G>A
XM_011514690.1:c.5002G>A	XP_011512992.1:p.Glu1668Lys
XM_011514691.1:c.5002G>A	XP_011512993.1:p.Glu1668Lys
XR_926870.1:n.535+6826C>T
XR_926871.1:n.403+6826C>T
XR_926872.1:n.535+6826C>T
XM_011514680.3:c.10927G>A	XP_011512982.1:p.Glu3643Lys
XM_011514682.3:c.10789G>A	XP_011512984.1:p.Glu3597Lys
XM_011514683.3:c.10285G>A	XP_011512985.1:p.Glu3429Lys
XM_011514684.3:c.10216G>A	XP_011512986.1:p.Glu3406Lys
XM_011514690.3:c.5002G>A	XP_011512992.1:p.Glu1668Lys
XM_011514691.3:c.5002G>A	XP_011512993.1:p.Glu1668Lys
XM_017010944.2:c.10927G>A	XP_016866433.1:p.Glu3643Lys
XM_017010945.2:c.10852G>A	XP_016866434.1:p.Glu3618Lys
XM_017010946.2:c.10732G>A	XP_016866435.1:p.Glu3578Lys
XM_017010947.2:c.10663G>A	XP_016866436.1:p.Glu3555Lys
XM_017010948.2:c.10216G>A	XP_016866437.1:p.Glu3406Lys
XM_017010949.2:c.9067G>A	XP_016866438.1:p.Glu3023Lys
XR_001743469.1:n.11203G>A
XR_001744157.1:n.3145+6826C>T
XR_926870.2:n.3145+6826C>T
XR_926871.2:n.3013+6826C>T
XR_926872.2:n.3145+6826C>T
NM_138694.4:c.10927G>A MANE Select	NP_619639.3:p.Glu3643Lys