Canonical Allele Identifier: CA450613370

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524739T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659941T>A , CM000668.2:g.51659941T>A	GRCh38
NC_000006.11:g.51524739T>A , CM000668.1:g.51524739T>A	GRCh37
NC_000006.10:g.51632698T>A	NCBI36
NG_008753.1:g.432685A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10185A>T MANE Select	ENSP00000360158.3:p.Thr3395=
ENST00000371117.7:c.10185A>T	ENSP00000360158.3:p.Thr3395=
NM_138694.3:c.10185A>T	NP_619639.3:p.Thr3395=
XM_011514679.1:c.10185A>T	XP_011512981.1:p.Thr3395=
XM_011514680.1:c.10185A>T	XP_011512982.1:p.Thr3395=
XM_011514681.1:c.10056A>T	XP_011512983.1:p.Thr3352=
XM_011514682.1:c.10047A>T	XP_011512984.1:p.Thr3349=
XM_011514683.1:c.9543A>T	XP_011512985.1:p.Thr3181=
XM_011514684.1:c.9474A>T	XP_011512986.1:p.Thr3158=
XM_011514687.1:c.10157-10721A>T	XP_011512989.1:n.10157-10721A>T
XM_011514690.1:c.4260A>T	XP_011512992.1:p.Thr1420=
XM_011514691.1:c.4260A>T	XP_011512993.1:p.Thr1420=
XR_926870.1:n.535+7568T>A
XR_926871.1:n.403+7568T>A
XR_926872.1:n.535+7568T>A
XM_011514680.3:c.10185A>T	XP_011512982.1:p.Thr3395=
XM_011514682.3:c.10047A>T	XP_011512984.1:p.Thr3349=
XM_011514683.3:c.9543A>T	XP_011512985.1:p.Thr3181=
XM_011514684.3:c.9474A>T	XP_011512986.1:p.Thr3158=
XM_011514690.3:c.4260A>T	XP_011512992.1:p.Thr1420=
XM_011514691.3:c.4260A>T	XP_011512993.1:p.Thr1420=
XM_017010944.2:c.10185A>T	XP_016866433.1:p.Thr3395=
XM_017010945.2:c.10110A>T	XP_016866434.1:p.Thr3370=
XM_017010946.2:c.9990A>T	XP_016866435.1:p.Thr3330=
XM_017010947.2:c.9921A>T	XP_016866436.1:p.Thr3307=
XM_017010948.2:c.9474A>T	XP_016866437.1:p.Thr3158=
XM_017010949.2:c.8325A>T	XP_016866438.1:p.Thr2775=
XR_001743469.1:n.10461A>T
XR_001744157.1:n.3145+7568T>A
XR_926870.2:n.3145+7568T>A
XR_926871.2:n.3013+7568T>A
XR_926872.2:n.3145+7568T>A
NM_138694.4:c.10185A>T MANE Select	NP_619639.3:p.Thr3395=