Canonical Allele Identifier: CA450411523

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491838T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627040T>G , CM000668.2:g.51627040T>G	GRCh38
NC_000006.11:g.51491838T>G , CM000668.1:g.51491838T>G	GRCh37
NC_000006.10:g.51599797T>G	NCBI36
NG_008753.1:g.465586A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11742A>C MANE Select	ENSP00000360158.3:p.Arg3914=
ENST00000371117.7:c.11742A>C	ENSP00000360158.3:p.Arg3914=
NM_138694.3:c.11742A>C	NP_619639.3:p.Arg3914=
XM_011514679.1:c.11742A>C	XP_011512981.1:p.Arg3914=
XM_011514680.1:c.11742A>C	XP_011512982.1:p.Arg3914=
XM_011514681.1:c.11613A>C	XP_011512983.1:p.Arg3871=
XM_011514682.1:c.11604A>C	XP_011512984.1:p.Arg3868=
XM_011514683.1:c.11100A>C	XP_011512985.1:p.Arg3700=
XM_011514684.1:c.11031A>C	XP_011512986.1:p.Arg3677=
XM_011514690.1:c.5817A>C	XP_011512992.1:p.Arg1939=
XM_011514691.1:c.5817A>C	XP_011512993.1:p.Arg1939=
XM_011514680.3:c.11742A>C	XP_011512982.1:p.Arg3914=
XM_011514682.3:c.11604A>C	XP_011512984.1:p.Arg3868=
XM_011514683.3:c.11100A>C	XP_011512985.1:p.Arg3700=
XM_011514684.3:c.11031A>C	XP_011512986.1:p.Arg3677=
XM_011514690.3:c.5817A>C	XP_011512992.1:p.Arg1939=
XM_011514691.3:c.5817A>C	XP_011512993.1:p.Arg1939=
XM_017010944.2:c.11742A>C	XP_016866433.1:p.Arg3914=
XM_017010945.2:c.11667A>C	XP_016866434.1:p.Arg3889=
XM_017010946.2:c.11547A>C	XP_016866435.1:p.Arg3849=
XM_017010947.2:c.11478A>C	XP_016866436.1:p.Arg3826=
XM_017010948.2:c.11031A>C	XP_016866437.1:p.Arg3677=
XM_017010949.2:c.9882A>C	XP_016866438.1:p.Arg3294=
NM_138694.4:c.11742A>C MANE Select	NP_619639.3:p.Arg3914=