Canonical Allele Identifier: CA364431063

Gene: PKHD1

Linked Data

• dbSNP Id: rs1235546368
• MyVariant Identifiers: chr6:g.51523981C>A (hg19) ; chr6:g.51659183C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659183C>A , CM000668.2:g.51659183C>A	GRCh38
NC_000006.11:g.51523981C>A , CM000668.1:g.51523981C>A	GRCh37
NC_000006.10:g.51631940C>A	NCBI36
NG_008753.1:g.433443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10943G>T MANE Select	ENSP00000360158.3:p.Arg3648Met
ENST00000371117.7:c.10943G>T	ENSP00000360158.3:p.Arg3648Met
NM_138694.3:c.10943G>T	NP_619639.3:p.Arg3648Met
XM_011514679.1:c.10943G>T	XP_011512981.1:p.Arg3648Met
XM_011514680.1:c.10943G>T	XP_011512982.1:p.Arg3648Met
XM_011514681.1:c.10814G>T	XP_011512983.1:p.Arg3605Met
XM_011514682.1:c.10805G>T	XP_011512984.1:p.Arg3602Met
XM_011514683.1:c.10301G>T	XP_011512985.1:p.Arg3434Met
XM_011514684.1:c.10232G>T	XP_011512986.1:p.Arg3411Met
XM_011514687.1:c.10157-9963G>T	XP_011512989.1:n.10157-9963G>T
XM_011514690.1:c.5018G>T	XP_011512992.1:p.Arg1673Met
XM_011514691.1:c.5018G>T	XP_011512993.1:p.Arg1673Met
XR_926870.1:n.535+6810C>A
XR_926871.1:n.403+6810C>A
XR_926872.1:n.535+6810C>A
XM_011514680.3:c.10943G>T	XP_011512982.1:p.Arg3648Met
XM_011514682.3:c.10805G>T	XP_011512984.1:p.Arg3602Met
XM_011514683.3:c.10301G>T	XP_011512985.1:p.Arg3434Met
XM_011514684.3:c.10232G>T	XP_011512986.1:p.Arg3411Met
XM_011514690.3:c.5018G>T	XP_011512992.1:p.Arg1673Met
XM_011514691.3:c.5018G>T	XP_011512993.1:p.Arg1673Met
XM_017010944.2:c.10943G>T	XP_016866433.1:p.Arg3648Met
XM_017010945.2:c.10868G>T	XP_016866434.1:p.Arg3623Met
XM_017010946.2:c.10748G>T	XP_016866435.1:p.Arg3583Met
XM_017010947.2:c.10679G>T	XP_016866436.1:p.Arg3560Met
XM_017010948.2:c.10232G>T	XP_016866437.1:p.Arg3411Met
XM_017010949.2:c.9083G>T	XP_016866438.1:p.Arg3028Met
XR_001743469.1:n.11219G>T
XR_001744157.1:n.3145+6810C>A
XR_926870.2:n.3145+6810C>A
XR_926871.2:n.3013+6810C>A
XR_926872.2:n.3145+6810C>A
NM_138694.4:c.10943G>T MANE Select	NP_619639.3:p.Arg3648Met