Canonical Allele Identifier: CA3850669

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619425G>A , CM000668.2:g.51619425G>A	GRCh38
NC_000006.11:g.51484223G>A , CM000668.1:g.51484223G>A	GRCh37
NC_000006.10:g.51592182G>A	NCBI36
NG_008753.1:g.473201C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11881C>T MANE Select	NP_619639.3:p.Arg3961Ter
ENST00000371117.8:c.11881C>T MANE Select	ENSP00000360158.3:p.Arg3961Ter
NM_138694.3:c.11881C>T	NP_619639.3:p.Arg3961Ter
ENST00000371117.7:c.11881C>T	ENSP00000360158.3:p.Arg3961Ter
XM_011514679.1:c.11881C>T	XP_011512981.1:p.Arg3961Ter
XM_011514680.1:c.11881C>T	XP_011512982.1:p.Arg3961Ter
XM_011514680.3:c.11881C>T	XP_011512982.1:p.Arg3961Ter
XM_011514681.1:c.11752C>T	XP_011512983.1:p.Arg3918Ter
XM_011514682.1:c.11743C>T	XP_011512984.1:p.Arg3915Ter
XM_011514682.3:c.11743C>T	XP_011512984.1:p.Arg3915Ter
XM_011514683.1:c.11239C>T	XP_011512985.1:p.Arg3747Ter
XM_011514683.3:c.11239C>T	XP_011512985.1:p.Arg3747Ter
XM_011514684.1:c.11170C>T	XP_011512986.1:p.Arg3724Ter
XM_011514684.3:c.11170C>T	XP_011512986.1:p.Arg3724Ter
XM_011514690.1:c.5956C>T	XP_011512992.1:p.Arg1986Ter
XM_011514690.3:c.5956C>T	XP_011512992.1:p.Arg1986Ter
XM_011514691.1:c.5956C>T	XP_011512993.1:p.Arg1986Ter
XM_011514691.3:c.5956C>T	XP_011512993.1:p.Arg1986Ter
XM_017010944.2:c.11881C>T	XP_016866433.1:p.Arg3961Ter
XM_017010945.2:c.11806C>T	XP_016866434.1:p.Arg3936Ter
XM_017010946.2:c.11686C>T	XP_016866435.1:p.Arg3896Ter
XM_017010947.2:c.11617C>T	XP_016866436.1:p.Arg3873Ter
XM_017010948.2:c.11170C>T	XP_016866437.1:p.Arg3724Ter
XM_017010949.2:c.10021C>T	XP_016866438.1:p.Arg3341Ter