Canonical Allele Identifier: CA3850966

Gene: PKHD1

Linked Data

• dbSNP Id: rs777911845
• ExAC: 6:51523857 C / T
• gnomAD v2: 6-51523857-C-T
• gnomAD v4: 6-51659059-C-T
• MyVariant Identifiers: chr6:g.51523857C>T (hg19) ; chr6:g.51659059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659059C>T , CM000668.2:g.51659059C>T	GRCh38
NC_000006.11:g.51523857C>T , CM000668.1:g.51523857C>T	GRCh37
NC_000006.10:g.51631816C>T	NCBI36
NG_008753.1:g.433567G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11067G>A MANE Select	ENSP00000360158.3:p.Leu3689=
ENST00000371117.7:c.11067G>A	ENSP00000360158.3:p.Leu3689=
NM_138694.3:c.11067G>A	NP_619639.3:p.Leu3689=
XM_011514679.1:c.11067G>A	XP_011512981.1:p.Leu3689=
XM_011514680.1:c.11067G>A	XP_011512982.1:p.Leu3689=
XM_011514681.1:c.10938G>A	XP_011512983.1:p.Leu3646=
XM_011514682.1:c.10929G>A	XP_011512984.1:p.Leu3643=
XM_011514683.1:c.10425G>A	XP_011512985.1:p.Leu3475=
XM_011514684.1:c.10356G>A	XP_011512986.1:p.Leu3452=
XM_011514687.1:c.10157-9839G>A	XP_011512989.1:n.10157-9839G>A
XM_011514690.1:c.5142G>A	XP_011512992.1:p.Leu1714=
XM_011514691.1:c.5142G>A	XP_011512993.1:p.Leu1714=
XR_926870.1:n.535+6686C>T
XR_926871.1:n.403+6686C>T
XR_926872.1:n.535+6686C>T
XM_011514680.3:c.11067G>A	XP_011512982.1:p.Leu3689=
XM_011514682.3:c.10929G>A	XP_011512984.1:p.Leu3643=
XM_011514683.3:c.10425G>A	XP_011512985.1:p.Leu3475=
XM_011514684.3:c.10356G>A	XP_011512986.1:p.Leu3452=
XM_011514690.3:c.5142G>A	XP_011512992.1:p.Leu1714=
XM_011514691.3:c.5142G>A	XP_011512993.1:p.Leu1714=
XM_017010944.2:c.11067G>A	XP_016866433.1:p.Leu3689=
XM_017010945.2:c.10992G>A	XP_016866434.1:p.Leu3664=
XM_017010946.2:c.10872G>A	XP_016866435.1:p.Leu3624=
XM_017010947.2:c.10803G>A	XP_016866436.1:p.Leu3601=
XM_017010948.2:c.10356G>A	XP_016866437.1:p.Leu3452=
XM_017010949.2:c.9207G>A	XP_016866438.1:p.Leu3069=
XR_001743469.1:n.11343G>A
XR_001744157.1:n.3145+6686C>T
XR_926870.2:n.3145+6686C>T
XR_926871.2:n.3013+6686C>T
XR_926872.2:n.3145+6686C>T
NM_138694.4:c.11067G>A MANE Select	NP_619639.3:p.Leu3689=