Canonical Allele Identifier: CA915944266

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 753014
• ClinVar RCV Id: RCV001429244
• dbSNP Id: rs1581896913

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659978G>A , CM000668.2:g.51659978G>A	GRCh38
NC_000006.11:g.51524776G>A , CM000668.1:g.51524776G>A	GRCh37
NC_000006.10:g.51632735G>A	NCBI36
NG_008753.1:g.432648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-9C>T MANE Select	ENSP00000360158.3:n.10157-9C>T
ENST00000371117.7:c.10157-9C>T	ENSP00000360158.3:n.10157-9C>T
NM_138694.3:c.10157-9C>T	NP_619639.3:n.10157-9C>T
XM_011514679.1:c.10157-9C>T	XP_011512981.1:n.10157-9C>T
XM_011514680.1:c.10157-9C>T	XP_011512982.1:n.10157-9C>T
XM_011514681.1:c.10028-9C>T	XP_011512983.1:n.10028-9C>T
XM_011514682.1:c.10019-9C>T	XP_011512984.1:n.10019-9C>T
XM_011514683.1:c.9515-9C>T	XP_011512985.1:n.9515-9C>T
XM_011514684.1:c.9446-9C>T	XP_011512986.1:n.9446-9C>T
XM_011514687.1:c.10157-10758C>T	XP_011512989.1:n.10157-10758C>T
XM_011514690.1:c.4232-9C>T	XP_011512992.1:n.4232-9C>T
XM_011514691.1:c.4232-9C>T	XP_011512993.1:n.4232-9C>T
XR_926870.1:n.535+7605G>A
XR_926871.1:n.403+7605G>A
XR_926872.1:n.535+7605G>A
XM_011514680.3:c.10157-9C>T	XP_011512982.1:n.10157-9C>T
XM_011514682.3:c.10019-9C>T	XP_011512984.1:n.10019-9C>T
XM_011514683.3:c.9515-9C>T	XP_011512985.1:n.9515-9C>T
XM_011514684.3:c.9446-9C>T	XP_011512986.1:n.9446-9C>T
XM_011514690.3:c.4232-9C>T	XP_011512992.1:n.4232-9C>T
XM_011514691.3:c.4232-9C>T	XP_011512993.1:n.4232-9C>T
XM_017010944.2:c.10157-9C>T	XP_016866433.1:n.10157-9C>T
XM_017010945.2:c.10082-9C>T	XP_016866434.1:n.10082-9C>T
XM_017010946.2:c.9962-9C>T	XP_016866435.1:n.9962-9C>T
XM_017010947.2:c.9893-9C>T	XP_016866436.1:n.9893-9C>T
XM_017010948.2:c.9446-9C>T	XP_016866437.1:n.9446-9C>T
XM_017010949.2:c.8297-9C>T	XP_016866438.1:n.8297-9C>T
XR_001743469.1:n.10433-9C>T
XR_001744157.1:n.3145+7605G>A
XR_926870.2:n.3145+7605G>A
XR_926871.2:n.3013+7605G>A
XR_926872.2:n.3145+7605G>A
NM_138694.4:c.10157-9C>T MANE Select	NP_619639.3:n.10157-9C>T