Canonical Allele Identifier: CA364437344

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524715G>C (hg19) ; chr6:g.51659917G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659917G>C , CM000668.2:g.51659917G>C	GRCh38
NC_000006.11:g.51524715G>C , CM000668.1:g.51524715G>C	GRCh37
NC_000006.10:g.51632674G>C	NCBI36
NG_008753.1:g.432709C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10209C>G MANE Select	ENSP00000360158.3:p.Phe3403Leu
ENST00000371117.7:c.10209C>G	ENSP00000360158.3:p.Phe3403Leu
NM_138694.3:c.10209C>G	NP_619639.3:p.Phe3403Leu
XM_011514679.1:c.10209C>G	XP_011512981.1:p.Phe3403Leu
XM_011514680.1:c.10209C>G	XP_011512982.1:p.Phe3403Leu
XM_011514681.1:c.10080C>G	XP_011512983.1:p.Phe3360Leu
XM_011514682.1:c.10071C>G	XP_011512984.1:p.Phe3357Leu
XM_011514683.1:c.9567C>G	XP_011512985.1:p.Phe3189Leu
XM_011514684.1:c.9498C>G	XP_011512986.1:p.Phe3166Leu
XM_011514687.1:c.10157-10697C>G	XP_011512989.1:n.10157-10697C>G
XM_011514690.1:c.4284C>G	XP_011512992.1:p.Phe1428Leu
XM_011514691.1:c.4284C>G	XP_011512993.1:p.Phe1428Leu
XR_926870.1:n.535+7544G>C
XR_926871.1:n.403+7544G>C
XR_926872.1:n.535+7544G>C
XM_011514680.3:c.10209C>G	XP_011512982.1:p.Phe3403Leu
XM_011514682.3:c.10071C>G	XP_011512984.1:p.Phe3357Leu
XM_011514683.3:c.9567C>G	XP_011512985.1:p.Phe3189Leu
XM_011514684.3:c.9498C>G	XP_011512986.1:p.Phe3166Leu
XM_011514690.3:c.4284C>G	XP_011512992.1:p.Phe1428Leu
XM_011514691.3:c.4284C>G	XP_011512993.1:p.Phe1428Leu
XM_017010944.2:c.10209C>G	XP_016866433.1:p.Phe3403Leu
XM_017010945.2:c.10134C>G	XP_016866434.1:p.Phe3378Leu
XM_017010946.2:c.10014C>G	XP_016866435.1:p.Phe3338Leu
XM_017010947.2:c.9945C>G	XP_016866436.1:p.Phe3315Leu
XM_017010948.2:c.9498C>G	XP_016866437.1:p.Phe3166Leu
XM_017010949.2:c.8349C>G	XP_016866438.1:p.Phe2783Leu
XR_001743469.1:n.10485C>G
XR_001744157.1:n.3145+7544G>C
XR_926870.2:n.3145+7544G>C
XR_926871.2:n.3013+7544G>C
XR_926872.2:n.3145+7544G>C
NM_138694.4:c.10209C>G MANE Select	NP_619639.3:p.Phe3403Leu