Canonical Allele Identifier: CA450613143

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619504G>A , CM000668.2:g.51619504G>A	GRCh38
NC_000006.11:g.51484302G>A , CM000668.1:g.51484302G>A	GRCh37
NC_000006.10:g.51592261G>A	NCBI36
NG_008753.1:g.473122C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11802C>T MANE Select	NP_619639.3:p.Val3934=
ENST00000371117.8:c.11802C>T MANE Select	ENSP00000360158.3:p.Val3934=
NM_138694.3:c.11802C>T	NP_619639.3:p.Val3934=
ENST00000371117.7:c.11802C>T	ENSP00000360158.3:p.Val3934=
XM_011514679.1:c.11802C>T	XP_011512981.1:p.Val3934=
XM_011514680.1:c.11802C>T	XP_011512982.1:p.Val3934=
XM_011514680.3:c.11802C>T	XP_011512982.1:p.Val3934=
XM_011514681.1:c.11673C>T	XP_011512983.1:p.Val3891=
XM_011514682.1:c.11664C>T	XP_011512984.1:p.Val3888=
XM_011514682.3:c.11664C>T	XP_011512984.1:p.Val3888=
XM_011514683.1:c.11160C>T	XP_011512985.1:p.Val3720=
XM_011514683.3:c.11160C>T	XP_011512985.1:p.Val3720=
XM_011514684.1:c.11091C>T	XP_011512986.1:p.Val3697=
XM_011514684.3:c.11091C>T	XP_011512986.1:p.Val3697=
XM_011514690.1:c.5877C>T	XP_011512992.1:p.Val1959=
XM_011514690.3:c.5877C>T	XP_011512992.1:p.Val1959=
XM_011514691.1:c.5877C>T	XP_011512993.1:p.Val1959=
XM_011514691.3:c.5877C>T	XP_011512993.1:p.Val1959=
XM_017010944.2:c.11802C>T	XP_016866433.1:p.Val3934=
XM_017010945.2:c.11727C>T	XP_016866434.1:p.Val3909=
XM_017010946.2:c.11607C>T	XP_016866435.1:p.Val3869=
XM_017010947.2:c.11538C>T	XP_016866436.1:p.Val3846=
XM_017010948.2:c.11091C>T	XP_016866437.1:p.Val3697=
XM_017010949.2:c.9942C>T	XP_016866438.1:p.Val3314=