Canonical Allele Identifier: CA364436471

Gene: PKHD1

Linked Data

• COSMIC: COSM4641254
• MyVariant Identifiers: chr6:g.51524615A>C (hg19) ; chr6:g.51659817A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659817A>C , CM000668.2:g.51659817A>C	GRCh38
NC_000006.11:g.51524615A>C , CM000668.1:g.51524615A>C	GRCh37
NC_000006.10:g.51632574A>C	NCBI36
NG_008753.1:g.432809T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10309T>G MANE Select	ENSP00000360158.3:p.Phe3437Val
ENST00000371117.7:c.10309T>G	ENSP00000360158.3:p.Phe3437Val
NM_138694.3:c.10309T>G	NP_619639.3:p.Phe3437Val
XM_011514679.1:c.10309T>G	XP_011512981.1:p.Phe3437Val
XM_011514680.1:c.10309T>G	XP_011512982.1:p.Phe3437Val
XM_011514681.1:c.10180T>G	XP_011512983.1:p.Phe3394Val
XM_011514682.1:c.10171T>G	XP_011512984.1:p.Phe3391Val
XM_011514683.1:c.9667T>G	XP_011512985.1:p.Phe3223Val
XM_011514684.1:c.9598T>G	XP_011512986.1:p.Phe3200Val
XM_011514687.1:c.10157-10597T>G	XP_011512989.1:n.10157-10597T>G
XM_011514690.1:c.4384T>G	XP_011512992.1:p.Phe1462Val
XM_011514691.1:c.4384T>G	XP_011512993.1:p.Phe1462Val
XR_926870.1:n.535+7444A>C
XR_926871.1:n.403+7444A>C
XR_926872.1:n.535+7444A>C
XM_011514680.3:c.10309T>G	XP_011512982.1:p.Phe3437Val
XM_011514682.3:c.10171T>G	XP_011512984.1:p.Phe3391Val
XM_011514683.3:c.9667T>G	XP_011512985.1:p.Phe3223Val
XM_011514684.3:c.9598T>G	XP_011512986.1:p.Phe3200Val
XM_011514690.3:c.4384T>G	XP_011512992.1:p.Phe1462Val
XM_011514691.3:c.4384T>G	XP_011512993.1:p.Phe1462Val
XM_017010944.2:c.10309T>G	XP_016866433.1:p.Phe3437Val
XM_017010945.2:c.10234T>G	XP_016866434.1:p.Phe3412Val
XM_017010946.2:c.10114T>G	XP_016866435.1:p.Phe3372Val
XM_017010947.2:c.10045T>G	XP_016866436.1:p.Phe3349Val
XM_017010948.2:c.9598T>G	XP_016866437.1:p.Phe3200Val
XM_017010949.2:c.8449T>G	XP_016866438.1:p.Phe2817Val
XR_001743469.1:n.10585T>G
XR_001744157.1:n.3145+7444A>C
XR_926870.2:n.3145+7444A>C
XR_926871.2:n.3013+7444A>C
XR_926872.2:n.3145+7444A>C
NM_138694.4:c.10309T>G MANE Select	NP_619639.3:p.Phe3437Val