Canonical Allele Identifier: CA3851663

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51791357C>T , CM000668.2:g.51791357C>T	GRCh38
NC_000006.11:g.51656155C>T , CM000668.1:g.51656155C>T	GRCh37
NC_000006.10:g.51764114C>T	NCBI36
NG_008753.1:g.301269G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.8319G>A MANE Select	NP_619639.3:p.Val2773=
ENST00000371117.8:c.8319G>A MANE Select	ENSP00000360158.3:p.Val2773=
NM_138694.3:c.8319G>A	NP_619639.3:p.Val2773=
NM_170724.2:c.8319G>A	NP_733842.2:p.Val2773=
NM_170724.3:c.8319G>A	NP_733842.2:p.Val2773=
ENST00000340994.4:c.8319G>A	ENSP00000341097.4:p.Val2773=
ENST00000371117.7:c.8319G>A	ENSP00000360158.3:p.Val2773=
XM_011514679.1:c.8319G>A	XP_011512981.1:p.Val2773=
XM_011514680.1:c.8319G>A	XP_011512982.1:p.Val2773=
XM_011514680.3:c.8319G>A	XP_011512982.1:p.Val2773=
XM_011514681.1:c.8190G>A	XP_011512983.1:p.Val2730=
XM_011514682.1:c.8303-15436G>A	XP_011512984.1:n.8303-15436G>A
XM_011514682.3:c.8303-15436G>A	XP_011512984.1:n.8303-15436G>A
XM_011514683.1:c.7677G>A	XP_011512985.1:p.Val2559=
XM_011514683.3:c.7677G>A	XP_011512985.1:p.Val2559=
XM_011514684.1:c.7608G>A	XP_011512986.1:p.Val2536=
XM_011514684.3:c.7608G>A	XP_011512986.1:p.Val2536=
XM_011514685.1:c.8319G>A	XP_011512987.1:p.Val2773=
XM_011514686.1:c.8319G>A	XP_011512988.1:p.Val2773=
XM_011514686.2:c.8319G>A	XP_011512988.1:p.Val2773=
XM_011514687.1:c.8319G>A	XP_011512989.1:p.Val2773=
XM_011514688.1:c.8319G>A	XP_011512990.1:p.Val2773=
XM_011514688.2:c.8319G>A	XP_011512990.1:p.Val2773=
XM_011514689.1:c.*25G>A	XP_011512991.1:n.*25G>A
XM_011514690.1:c.2394G>A	XP_011512992.1:p.Val798=
XM_011514690.3:c.2394G>A	XP_011512992.1:p.Val798=
XM_011514691.1:c.2394G>A	XP_011512993.1:p.Val798=
XM_011514691.3:c.2394G>A	XP_011512993.1:p.Val798=
XM_017010944.2:c.8319G>A	XP_016866433.1:p.Val2773=
XM_017010945.2:c.8244G>A	XP_016866434.1:p.Val2748=
XM_017010946.2:c.8124G>A	XP_016866435.1:p.Val2708=
XM_017010947.2:c.8055G>A	XP_016866436.1:p.Val2685=
XM_017010948.2:c.7608G>A	XP_016866437.1:p.Val2536=
XM_017010949.2:c.6459G>A	XP_016866438.1:p.Val2153=
XM_017010950.1:c.8319G>A	XP_016866439.1:p.Val2773=
XM_017010951.1:c.8319G>A	XP_016866440.1:p.Val2773=
XR_001743469.1:n.8595G>A