Canonical Allele Identifier: CA364425853

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51649111G>T , CM000668.2:g.51649111G>T	GRCh38
NC_000006.11:g.51513909G>T , CM000668.1:g.51513909G>T	GRCh37
NC_000006.10:g.51621868G>T	NCBI36
NG_008753.1:g.443515C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11284C>A MANE Select	NP_619639.3:p.Pro3762Thr
ENST00000371117.8:c.11284C>A MANE Select	ENSP00000360158.3:p.Pro3762Thr
NM_138694.3:c.11284C>A	NP_619639.3:p.Pro3762Thr
ENST00000371117.7:c.11284C>A	ENSP00000360158.3:p.Pro3762Thr
XM_011514679.1:c.11284C>A	XP_011512981.1:p.Pro3762Thr
XM_011514680.1:c.11284C>A	XP_011512982.1:p.Pro3762Thr
XM_011514680.3:c.11284C>A	XP_011512982.1:p.Pro3762Thr
XM_011514681.1:c.11155C>A	XP_011512983.1:p.Pro3719Thr
XM_011514682.1:c.11146C>A	XP_011512984.1:p.Pro3716Thr
XM_011514682.3:c.11146C>A	XP_011512984.1:p.Pro3716Thr
XM_011514683.1:c.10642C>A	XP_011512985.1:p.Pro3548Thr
XM_011514683.3:c.10642C>A	XP_011512985.1:p.Pro3548Thr
XM_011514684.1:c.10573C>A	XP_011512986.1:p.Pro3525Thr
XM_011514684.3:c.10573C>A	XP_011512986.1:p.Pro3525Thr
XM_011514687.1:c.*78C>A	XP_011512989.1:n.*78C>A
XM_011514690.1:c.5359C>A	XP_011512992.1:p.Pro1787Thr
XM_011514690.3:c.5359C>A	XP_011512992.1:p.Pro1787Thr
XM_011514691.1:c.5359C>A	XP_011512993.1:p.Pro1787Thr
XM_011514691.3:c.5359C>A	XP_011512993.1:p.Pro1787Thr
XM_017010944.2:c.11284C>A	XP_016866433.1:p.Pro3762Thr
XM_017010945.2:c.11209C>A	XP_016866434.1:p.Pro3737Thr
XM_017010946.2:c.11089C>A	XP_016866435.1:p.Pro3697Thr
XM_017010947.2:c.11020C>A	XP_016866436.1:p.Pro3674Thr
XM_017010948.2:c.10573C>A	XP_016866437.1:p.Pro3525Thr
XM_017010949.2:c.9424C>A	XP_016866438.1:p.Pro3142Thr
XR_001743469.1:n.11560C>A