Canonical Allele Identifier: CA364431382

Gene: PKHD1

Linked Data

• dbSNP Id: rs1243887386
• MyVariant Identifiers: chr6:g.51524026C>G (hg19) ; chr6:g.51659228C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659228C>G , CM000668.2:g.51659228C>G	GRCh38
NC_000006.11:g.51524026C>G , CM000668.1:g.51524026C>G	GRCh37
NC_000006.10:g.51631985C>G	NCBI36
NG_008753.1:g.433398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10898G>C MANE Select	ENSP00000360158.3:p.Arg3633Thr
ENST00000371117.7:c.10898G>C	ENSP00000360158.3:p.Arg3633Thr
NM_138694.3:c.10898G>C	NP_619639.3:p.Arg3633Thr
XM_011514679.1:c.10898G>C	XP_011512981.1:p.Arg3633Thr
XM_011514680.1:c.10898G>C	XP_011512982.1:p.Arg3633Thr
XM_011514681.1:c.10769G>C	XP_011512983.1:p.Arg3590Thr
XM_011514682.1:c.10760G>C	XP_011512984.1:p.Arg3587Thr
XM_011514683.1:c.10256G>C	XP_011512985.1:p.Arg3419Thr
XM_011514684.1:c.10187G>C	XP_011512986.1:p.Arg3396Thr
XM_011514687.1:c.10157-10008G>C	XP_011512989.1:n.10157-10008G>C
XM_011514690.1:c.4973G>C	XP_011512992.1:p.Arg1658Thr
XM_011514691.1:c.4973G>C	XP_011512993.1:p.Arg1658Thr
XR_926870.1:n.535+6855C>G
XR_926871.1:n.403+6855C>G
XR_926872.1:n.535+6855C>G
XM_011514680.3:c.10898G>C	XP_011512982.1:p.Arg3633Thr
XM_011514682.3:c.10760G>C	XP_011512984.1:p.Arg3587Thr
XM_011514683.3:c.10256G>C	XP_011512985.1:p.Arg3419Thr
XM_011514684.3:c.10187G>C	XP_011512986.1:p.Arg3396Thr
XM_011514690.3:c.4973G>C	XP_011512992.1:p.Arg1658Thr
XM_011514691.3:c.4973G>C	XP_011512993.1:p.Arg1658Thr
XM_017010944.2:c.10898G>C	XP_016866433.1:p.Arg3633Thr
XM_017010945.2:c.10823G>C	XP_016866434.1:p.Arg3608Thr
XM_017010946.2:c.10703G>C	XP_016866435.1:p.Arg3568Thr
XM_017010947.2:c.10634G>C	XP_016866436.1:p.Arg3545Thr
XM_017010948.2:c.10187G>C	XP_016866437.1:p.Arg3396Thr
XM_017010949.2:c.9038G>C	XP_016866438.1:p.Arg3013Thr
XR_001743469.1:n.11174G>C
XR_001744157.1:n.3145+6855C>G
XR_926870.2:n.3145+6855C>G
XR_926871.2:n.3013+6855C>G
XR_926872.2:n.3145+6855C>G
NM_138694.4:c.10898G>C MANE Select	NP_619639.3:p.Arg3633Thr