Canonical Allele Identifier: CA364437258

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524707T>C (hg19) ; chr6:g.51659909T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659909T>C , CM000668.2:g.51659909T>C	GRCh38
NC_000006.11:g.51524707T>C , CM000668.1:g.51524707T>C	GRCh37
NC_000006.10:g.51632666T>C	NCBI36
NG_008753.1:g.432717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10217A>G MANE Select	ENSP00000360158.3:p.Lys3406Arg
ENST00000371117.7:c.10217A>G	ENSP00000360158.3:p.Lys3406Arg
NM_138694.3:c.10217A>G	NP_619639.3:p.Lys3406Arg
XM_011514679.1:c.10217A>G	XP_011512981.1:p.Lys3406Arg
XM_011514680.1:c.10217A>G	XP_011512982.1:p.Lys3406Arg
XM_011514681.1:c.10088A>G	XP_011512983.1:p.Lys3363Arg
XM_011514682.1:c.10079A>G	XP_011512984.1:p.Lys3360Arg
XM_011514683.1:c.9575A>G	XP_011512985.1:p.Lys3192Arg
XM_011514684.1:c.9506A>G	XP_011512986.1:p.Lys3169Arg
XM_011514687.1:c.10157-10689A>G	XP_011512989.1:n.10157-10689A>G
XM_011514690.1:c.4292A>G	XP_011512992.1:p.Lys1431Arg
XM_011514691.1:c.4292A>G	XP_011512993.1:p.Lys1431Arg
XR_926870.1:n.535+7536T>C
XR_926871.1:n.403+7536T>C
XR_926872.1:n.535+7536T>C
XM_011514680.3:c.10217A>G	XP_011512982.1:p.Lys3406Arg
XM_011514682.3:c.10079A>G	XP_011512984.1:p.Lys3360Arg
XM_011514683.3:c.9575A>G	XP_011512985.1:p.Lys3192Arg
XM_011514684.3:c.9506A>G	XP_011512986.1:p.Lys3169Arg
XM_011514690.3:c.4292A>G	XP_011512992.1:p.Lys1431Arg
XM_011514691.3:c.4292A>G	XP_011512993.1:p.Lys1431Arg
XM_017010944.2:c.10217A>G	XP_016866433.1:p.Lys3406Arg
XM_017010945.2:c.10142A>G	XP_016866434.1:p.Lys3381Arg
XM_017010946.2:c.10022A>G	XP_016866435.1:p.Lys3341Arg
XM_017010947.2:c.9953A>G	XP_016866436.1:p.Lys3318Arg
XM_017010948.2:c.9506A>G	XP_016866437.1:p.Lys3169Arg
XM_017010949.2:c.8357A>G	XP_016866438.1:p.Lys2786Arg
XR_001743469.1:n.10493A>G
XR_001744157.1:n.3145+7536T>C
XR_926870.2:n.3145+7536T>C
XR_926871.2:n.3013+7536T>C
XR_926872.2:n.3145+7536T>C
NM_138694.4:c.10217A>G MANE Select	NP_619639.3:p.Lys3406Arg