Canonical Allele Identifier: CA450612843

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524081T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659283T>G , CM000668.2:g.51659283T>G	GRCh38
NC_000006.11:g.51524081T>G , CM000668.1:g.51524081T>G	GRCh37
NC_000006.10:g.51632040T>G	NCBI36
NG_008753.1:g.433343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10843A>C MANE Select	ENSP00000360158.3:p.Arg3615=
ENST00000371117.7:c.10843A>C	ENSP00000360158.3:p.Arg3615=
NM_138694.3:c.10843A>C	NP_619639.3:p.Arg3615=
XM_011514679.1:c.10843A>C	XP_011512981.1:p.Arg3615=
XM_011514680.1:c.10843A>C	XP_011512982.1:p.Arg3615=
XM_011514681.1:c.10714A>C	XP_011512983.1:p.Arg3572=
XM_011514682.1:c.10705A>C	XP_011512984.1:p.Arg3569=
XM_011514683.1:c.10201A>C	XP_011512985.1:p.Arg3401=
XM_011514684.1:c.10132A>C	XP_011512986.1:p.Arg3378=
XM_011514687.1:c.10157-10063A>C	XP_011512989.1:n.10157-10063A>C
XM_011514690.1:c.4918A>C	XP_011512992.1:p.Arg1640=
XM_011514691.1:c.4918A>C	XP_011512993.1:p.Arg1640=
XR_926870.1:n.535+6910T>G
XR_926871.1:n.403+6910T>G
XR_926872.1:n.535+6910T>G
XM_011514680.3:c.10843A>C	XP_011512982.1:p.Arg3615=
XM_011514682.3:c.10705A>C	XP_011512984.1:p.Arg3569=
XM_011514683.3:c.10201A>C	XP_011512985.1:p.Arg3401=
XM_011514684.3:c.10132A>C	XP_011512986.1:p.Arg3378=
XM_011514690.3:c.4918A>C	XP_011512992.1:p.Arg1640=
XM_011514691.3:c.4918A>C	XP_011512993.1:p.Arg1640=
XM_017010944.2:c.10843A>C	XP_016866433.1:p.Arg3615=
XM_017010945.2:c.10768A>C	XP_016866434.1:p.Arg3590=
XM_017010946.2:c.10648A>C	XP_016866435.1:p.Arg3550=
XM_017010947.2:c.10579A>C	XP_016866436.1:p.Arg3527=
XM_017010948.2:c.10132A>C	XP_016866437.1:p.Arg3378=
XM_017010949.2:c.8983A>C	XP_016866438.1:p.Arg2995=
XR_001743469.1:n.11119A>C
XR_001744157.1:n.3145+6910T>G
XR_926870.2:n.3145+6910T>G
XR_926871.2:n.3013+6910T>G
XR_926872.2:n.3145+6910T>G
NM_138694.4:c.10843A>C MANE Select	NP_619639.3:p.Arg3615=