Canonical Allele Identifier: CA450613176

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659620-C-T
• MyVariant Identifiers: chr6:g.51524418C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659620C>T , CM000668.2:g.51659620C>T	GRCh38
NC_000006.11:g.51524418C>T , CM000668.1:g.51524418C>T	GRCh37
NC_000006.10:g.51632377C>T	NCBI36
NG_008753.1:g.433006G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.10506G>A MANE Select	ENSP00000360158.3:p.Glu3502=
ENST00000371117.7:c.10506G>A	ENSP00000360158.3:p.Glu3502=
NM_138694.3:c.10506G>A	NP_619639.3:p.Glu3502=
XM_011514679.1:c.10506G>A	XP_011512981.1:p.Glu3502=
XM_011514680.1:c.10506G>A	XP_011512982.1:p.Glu3502=
XM_011514681.1:c.10377G>A	XP_011512983.1:p.Glu3459=
XM_011514682.1:c.10368G>A	XP_011512984.1:p.Glu3456=
XM_011514683.1:c.9864G>A	XP_011512985.1:p.Glu3288=
XM_011514684.1:c.9795G>A	XP_011512986.1:p.Glu3265=
XM_011514687.1:c.10157-10400G>A	XP_011512989.1:n.10157-10400G>A
XM_011514690.1:c.4581G>A	XP_011512992.1:p.Glu1527=
XM_011514691.1:c.4581G>A	XP_011512993.1:p.Glu1527=
XR_926870.1:n.535+7247C>T
XR_926871.1:n.403+7247C>T
XR_926872.1:n.535+7247C>T
XM_011514680.3:c.10506G>A	XP_011512982.1:p.Glu3502=
XM_011514682.3:c.10368G>A	XP_011512984.1:p.Glu3456=
XM_011514683.3:c.9864G>A	XP_011512985.1:p.Glu3288=
XM_011514684.3:c.9795G>A	XP_011512986.1:p.Glu3265=
XM_011514690.3:c.4581G>A	XP_011512992.1:p.Glu1527=
XM_011514691.3:c.4581G>A	XP_011512993.1:p.Glu1527=
XM_017010944.2:c.10506G>A	XP_016866433.1:p.Glu3502=
XM_017010945.2:c.10431G>A	XP_016866434.1:p.Glu3477=
XM_017010946.2:c.10311G>A	XP_016866435.1:p.Glu3437=
XM_017010947.2:c.10242G>A	XP_016866436.1:p.Glu3414=
XM_017010948.2:c.9795G>A	XP_016866437.1:p.Glu3265=
XM_017010949.2:c.8646G>A	XP_016866438.1:p.Glu2882=
XR_001743469.1:n.10782G>A
XR_001744157.1:n.3145+7247C>T
XR_926870.2:n.3145+7247C>T
XR_926871.2:n.3013+7247C>T
XR_926872.2:n.3145+7247C>T
NM_138694.4:c.10506G>A MANE Select	NP_619639.3:p.Glu3502=