Canonical Allele Identifier: CA364437687

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524761A>C (hg19) ; chr6:g.51659963A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659963A>C , CM000668.2:g.51659963A>C	GRCh38
NC_000006.11:g.51524761A>C , CM000668.1:g.51524761A>C	GRCh37
NC_000006.10:g.51632720A>C	NCBI36
NG_008753.1:g.432663T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10163T>G MANE Select	ENSP00000360158.3:p.Phe3388Cys
ENST00000371117.7:c.10163T>G	ENSP00000360158.3:p.Phe3388Cys
NM_138694.3:c.10163T>G	NP_619639.3:p.Phe3388Cys
XM_011514679.1:c.10163T>G	XP_011512981.1:p.Phe3388Cys
XM_011514680.1:c.10163T>G	XP_011512982.1:p.Phe3388Cys
XM_011514681.1:c.10034T>G	XP_011512983.1:p.Phe3345Cys
XM_011514682.1:c.10025T>G	XP_011512984.1:p.Phe3342Cys
XM_011514683.1:c.9521T>G	XP_011512985.1:p.Phe3174Cys
XM_011514684.1:c.9452T>G	XP_011512986.1:p.Phe3151Cys
XM_011514687.1:c.10157-10743T>G	XP_011512989.1:n.10157-10743T>G
XM_011514690.1:c.4238T>G	XP_011512992.1:p.Phe1413Cys
XM_011514691.1:c.4238T>G	XP_011512993.1:p.Phe1413Cys
XR_926870.1:n.535+7590A>C
XR_926871.1:n.403+7590A>C
XR_926872.1:n.535+7590A>C
XM_011514680.3:c.10163T>G	XP_011512982.1:p.Phe3388Cys
XM_011514682.3:c.10025T>G	XP_011512984.1:p.Phe3342Cys
XM_011514683.3:c.9521T>G	XP_011512985.1:p.Phe3174Cys
XM_011514684.3:c.9452T>G	XP_011512986.1:p.Phe3151Cys
XM_011514690.3:c.4238T>G	XP_011512992.1:p.Phe1413Cys
XM_011514691.3:c.4238T>G	XP_011512993.1:p.Phe1413Cys
XM_017010944.2:c.10163T>G	XP_016866433.1:p.Phe3388Cys
XM_017010945.2:c.10088T>G	XP_016866434.1:p.Phe3363Cys
XM_017010946.2:c.9968T>G	XP_016866435.1:p.Phe3323Cys
XM_017010947.2:c.9899T>G	XP_016866436.1:p.Phe3300Cys
XM_017010948.2:c.9452T>G	XP_016866437.1:p.Phe3151Cys
XM_017010949.2:c.8303T>G	XP_016866438.1:p.Phe2768Cys
XR_001743469.1:n.10439T>G
XR_001744157.1:n.3145+7590A>C
XR_926870.2:n.3145+7590A>C
XR_926871.2:n.3013+7590A>C
XR_926872.2:n.3145+7590A>C
NM_138694.4:c.10163T>G MANE Select	NP_619639.3:p.Phe3388Cys