Canonical Allele Identifier: CA450410823

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619159C>T , CM000668.2:g.51619159C>T	GRCh38
NC_000006.11:g.51483957C>T , CM000668.1:g.51483957C>T	GRCh37
NC_000006.10:g.51591916C>T	NCBI36
NG_008753.1:g.473467G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.12147G>A MANE Select	NP_619639.3:p.Glu4049=
ENST00000371117.8:c.12147G>A MANE Select	ENSP00000360158.3:p.Glu4049=
NM_138694.3:c.12147G>A	NP_619639.3:p.Glu4049=
ENST00000371117.7:c.12147G>A	ENSP00000360158.3:p.Glu4049=
XM_011514679.1:c.12147G>A	XP_011512981.1:p.Glu4049=
XM_011514680.1:c.12147G>A	XP_011512982.1:p.Glu4049=
XM_011514680.3:c.12147G>A	XP_011512982.1:p.Glu4049=
XM_011514681.1:c.12018G>A	XP_011512983.1:p.Glu4006=
XM_011514682.1:c.12009G>A	XP_011512984.1:p.Glu4003=
XM_011514682.3:c.12009G>A	XP_011512984.1:p.Glu4003=
XM_011514683.1:c.11505G>A	XP_011512985.1:p.Glu3835=
XM_011514683.3:c.11505G>A	XP_011512985.1:p.Glu3835=
XM_011514684.1:c.11436G>A	XP_011512986.1:p.Glu3812=
XM_011514684.3:c.11436G>A	XP_011512986.1:p.Glu3812=
XM_011514690.1:c.6222G>A	XP_011512992.1:p.Glu2074=
XM_011514690.3:c.6222G>A	XP_011512992.1:p.Glu2074=
XM_011514691.1:c.6222G>A	XP_011512993.1:p.Glu2074=
XM_011514691.3:c.6222G>A	XP_011512993.1:p.Glu2074=
XM_017010944.2:c.12147G>A	XP_016866433.1:p.Glu4049=
XM_017010945.2:c.12072G>A	XP_016866434.1:p.Glu4024=
XM_017010946.2:c.11952G>A	XP_016866435.1:p.Glu3984=
XM_017010947.2:c.11883G>A	XP_016866436.1:p.Glu3961=
XM_017010948.2:c.11436G>A	XP_016866437.1:p.Glu3812=
XM_017010949.2:c.10287G>A	XP_016866438.1:p.Glu3429=