Canonical Allele Identifier: CA364431339

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524014C>G (hg19) ; chr6:g.51659216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659216C>G , CM000668.2:g.51659216C>G	GRCh38
NC_000006.11:g.51524014C>G , CM000668.1:g.51524014C>G	GRCh37
NC_000006.10:g.51631973C>G	NCBI36
NG_008753.1:g.433410G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10910G>C MANE Select	ENSP00000360158.3:p.Arg3637Pro
ENST00000371117.7:c.10910G>C	ENSP00000360158.3:p.Arg3637Pro
NM_138694.3:c.10910G>C	NP_619639.3:p.Arg3637Pro
XM_011514679.1:c.10910G>C	XP_011512981.1:p.Arg3637Pro
XM_011514680.1:c.10910G>C	XP_011512982.1:p.Arg3637Pro
XM_011514681.1:c.10781G>C	XP_011512983.1:p.Arg3594Pro
XM_011514682.1:c.10772G>C	XP_011512984.1:p.Arg3591Pro
XM_011514683.1:c.10268G>C	XP_011512985.1:p.Arg3423Pro
XM_011514684.1:c.10199G>C	XP_011512986.1:p.Arg3400Pro
XM_011514687.1:c.10157-9996G>C	XP_011512989.1:n.10157-9996G>C
XM_011514690.1:c.4985G>C	XP_011512992.1:p.Arg1662Pro
XM_011514691.1:c.4985G>C	XP_011512993.1:p.Arg1662Pro
XR_926870.1:n.535+6843C>G
XR_926871.1:n.403+6843C>G
XR_926872.1:n.535+6843C>G
XM_011514680.3:c.10910G>C	XP_011512982.1:p.Arg3637Pro
XM_011514682.3:c.10772G>C	XP_011512984.1:p.Arg3591Pro
XM_011514683.3:c.10268G>C	XP_011512985.1:p.Arg3423Pro
XM_011514684.3:c.10199G>C	XP_011512986.1:p.Arg3400Pro
XM_011514690.3:c.4985G>C	XP_011512992.1:p.Arg1662Pro
XM_011514691.3:c.4985G>C	XP_011512993.1:p.Arg1662Pro
XM_017010944.2:c.10910G>C	XP_016866433.1:p.Arg3637Pro
XM_017010945.2:c.10835G>C	XP_016866434.1:p.Arg3612Pro
XM_017010946.2:c.10715G>C	XP_016866435.1:p.Arg3572Pro
XM_017010947.2:c.10646G>C	XP_016866436.1:p.Arg3549Pro
XM_017010948.2:c.10199G>C	XP_016866437.1:p.Arg3400Pro
XM_017010949.2:c.9050G>C	XP_016866438.1:p.Arg3017Pro
XR_001743469.1:n.11186G>C
XR_001744157.1:n.3145+6843C>G
XR_926870.2:n.3145+6843C>G
XR_926871.2:n.3013+6843C>G
XR_926872.2:n.3145+6843C>G
NM_138694.4:c.10910G>C MANE Select	NP_619639.3:p.Arg3637Pro