Canonical Allele Identifier: CA364435637

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524506A>C (hg19) ; chr6:g.51659708A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659708A>C , CM000668.2:g.51659708A>C	GRCh38
NC_000006.11:g.51524506A>C , CM000668.1:g.51524506A>C	GRCh37
NC_000006.10:g.51632465A>C	NCBI36
NG_008753.1:g.432918T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10418T>G MANE Select	ENSP00000360158.3:p.Phe3473Cys
ENST00000371117.7:c.10418T>G	ENSP00000360158.3:p.Phe3473Cys
NM_138694.3:c.10418T>G	NP_619639.3:p.Phe3473Cys
XM_011514679.1:c.10418T>G	XP_011512981.1:p.Phe3473Cys
XM_011514680.1:c.10418T>G	XP_011512982.1:p.Phe3473Cys
XM_011514681.1:c.10289T>G	XP_011512983.1:p.Phe3430Cys
XM_011514682.1:c.10280T>G	XP_011512984.1:p.Phe3427Cys
XM_011514683.1:c.9776T>G	XP_011512985.1:p.Phe3259Cys
XM_011514684.1:c.9707T>G	XP_011512986.1:p.Phe3236Cys
XM_011514687.1:c.10157-10488T>G	XP_011512989.1:n.10157-10488T>G
XM_011514690.1:c.4493T>G	XP_011512992.1:p.Phe1498Cys
XM_011514691.1:c.4493T>G	XP_011512993.1:p.Phe1498Cys
XR_926870.1:n.535+7335A>C
XR_926871.1:n.403+7335A>C
XR_926872.1:n.535+7335A>C
XM_011514680.3:c.10418T>G	XP_011512982.1:p.Phe3473Cys
XM_011514682.3:c.10280T>G	XP_011512984.1:p.Phe3427Cys
XM_011514683.3:c.9776T>G	XP_011512985.1:p.Phe3259Cys
XM_011514684.3:c.9707T>G	XP_011512986.1:p.Phe3236Cys
XM_011514690.3:c.4493T>G	XP_011512992.1:p.Phe1498Cys
XM_011514691.3:c.4493T>G	XP_011512993.1:p.Phe1498Cys
XM_017010944.2:c.10418T>G	XP_016866433.1:p.Phe3473Cys
XM_017010945.2:c.10343T>G	XP_016866434.1:p.Phe3448Cys
XM_017010946.2:c.10223T>G	XP_016866435.1:p.Phe3408Cys
XM_017010947.2:c.10154T>G	XP_016866436.1:p.Phe3385Cys
XM_017010948.2:c.9707T>G	XP_016866437.1:p.Phe3236Cys
XM_017010949.2:c.8558T>G	XP_016866438.1:p.Phe2853Cys
XR_001743469.1:n.10694T>G
XR_001744157.1:n.3145+7335A>C
XR_926870.2:n.3145+7335A>C
XR_926871.2:n.3013+7335A>C
XR_926872.2:n.3145+7335A>C
NM_138694.4:c.10418T>G MANE Select	NP_619639.3:p.Phe3473Cys