Canonical Allele Identifier: CA450411531

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491841G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627043G>C , CM000668.2:g.51627043G>C	GRCh38
NC_000006.11:g.51491841G>C , CM000668.1:g.51491841G>C	GRCh37
NC_000006.10:g.51599800G>C	NCBI36
NG_008753.1:g.465583C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11739C>G MANE Select	ENSP00000360158.3:p.Arg3913=
ENST00000371117.7:c.11739C>G	ENSP00000360158.3:p.Arg3913=
NM_138694.3:c.11739C>G	NP_619639.3:p.Arg3913=
XM_011514679.1:c.11739C>G	XP_011512981.1:p.Arg3913=
XM_011514680.1:c.11739C>G	XP_011512982.1:p.Arg3913=
XM_011514681.1:c.11610C>G	XP_011512983.1:p.Arg3870=
XM_011514682.1:c.11601C>G	XP_011512984.1:p.Arg3867=
XM_011514683.1:c.11097C>G	XP_011512985.1:p.Arg3699=
XM_011514684.1:c.11028C>G	XP_011512986.1:p.Arg3676=
XM_011514690.1:c.5814C>G	XP_011512992.1:p.Arg1938=
XM_011514691.1:c.5814C>G	XP_011512993.1:p.Arg1938=
XM_011514680.3:c.11739C>G	XP_011512982.1:p.Arg3913=
XM_011514682.3:c.11601C>G	XP_011512984.1:p.Arg3867=
XM_011514683.3:c.11097C>G	XP_011512985.1:p.Arg3699=
XM_011514684.3:c.11028C>G	XP_011512986.1:p.Arg3676=
XM_011514690.3:c.5814C>G	XP_011512992.1:p.Arg1938=
XM_011514691.3:c.5814C>G	XP_011512993.1:p.Arg1938=
XM_017010944.2:c.11739C>G	XP_016866433.1:p.Arg3913=
XM_017010945.2:c.11664C>G	XP_016866434.1:p.Arg3888=
XM_017010946.2:c.11544C>G	XP_016866435.1:p.Arg3848=
XM_017010947.2:c.11475C>G	XP_016866436.1:p.Arg3825=
XM_017010948.2:c.11028C>G	XP_016866437.1:p.Arg3676=
XM_017010949.2:c.9879C>G	XP_016866438.1:p.Arg3293=
NM_138694.4:c.11739C>G MANE Select	NP_619639.3:p.Arg3913=