Canonical Allele Identifier: CA3850962

Gene: PKHD1

Linked Data

• dbSNP Id: rs751187289
• ExAC: 6:51523839 A / T
• gnomAD v2: 6-51523839-A-T
• gnomAD v4: 6-51659041-A-T
• MyVariant Identifiers: chr6:g.51523839A>T (hg19) ; chr6:g.51659041A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659041A>T , CM000668.2:g.51659041A>T	GRCh38
NC_000006.11:g.51523839A>T , CM000668.1:g.51523839A>T	GRCh37
NC_000006.10:g.51631798A>T	NCBI36
NG_008753.1:g.433585T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11085T>A MANE Select	ENSP00000360158.3:p.Thr3695=
ENST00000371117.7:c.11085T>A	ENSP00000360158.3:p.Thr3695=
NM_138694.3:c.11085T>A	NP_619639.3:p.Thr3695=
XM_011514679.1:c.11085T>A	XP_011512981.1:p.Thr3695=
XM_011514680.1:c.11085T>A	XP_011512982.1:p.Thr3695=
XM_011514681.1:c.10956T>A	XP_011512983.1:p.Thr3652=
XM_011514682.1:c.10947T>A	XP_011512984.1:p.Thr3649=
XM_011514683.1:c.10443T>A	XP_011512985.1:p.Thr3481=
XM_011514684.1:c.10374T>A	XP_011512986.1:p.Thr3458=
XM_011514687.1:c.10157-9821T>A	XP_011512989.1:n.10157-9821T>A
XM_011514690.1:c.5160T>A	XP_011512992.1:p.Thr1720=
XM_011514691.1:c.5160T>A	XP_011512993.1:p.Thr1720=
XR_926870.1:n.535+6668A>T
XR_926871.1:n.403+6668A>T
XR_926872.1:n.535+6668A>T
XM_011514680.3:c.11085T>A	XP_011512982.1:p.Thr3695=
XM_011514682.3:c.10947T>A	XP_011512984.1:p.Thr3649=
XM_011514683.3:c.10443T>A	XP_011512985.1:p.Thr3481=
XM_011514684.3:c.10374T>A	XP_011512986.1:p.Thr3458=
XM_011514690.3:c.5160T>A	XP_011512992.1:p.Thr1720=
XM_011514691.3:c.5160T>A	XP_011512993.1:p.Thr1720=
XM_017010944.2:c.11085T>A	XP_016866433.1:p.Thr3695=
XM_017010945.2:c.11010T>A	XP_016866434.1:p.Thr3670=
XM_017010946.2:c.10890T>A	XP_016866435.1:p.Thr3630=
XM_017010947.2:c.10821T>A	XP_016866436.1:p.Thr3607=
XM_017010948.2:c.10374T>A	XP_016866437.1:p.Thr3458=
XM_017010949.2:c.9225T>A	XP_016866438.1:p.Thr3075=
XR_001743469.1:n.11361T>A
XR_001744157.1:n.3145+6668A>T
XR_926870.2:n.3145+6668A>T
XR_926871.2:n.3013+6668A>T
XR_926872.2:n.3145+6668A>T
NM_138694.4:c.11085T>A MANE Select	NP_619639.3:p.Thr3695=