Canonical Allele Identifier: CA3850660

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619405C>T , CM000668.2:g.51619405C>T	GRCh38
NC_000006.11:g.51484203C>T , CM000668.1:g.51484203C>T	GRCh37
NC_000006.10:g.51592162C>T	NCBI36
NG_008753.1:g.473221G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11901G>A MANE Select	NP_619639.3:p.Val3967=
ENST00000371117.8:c.11901G>A MANE Select	ENSP00000360158.3:p.Val3967=
NM_138694.3:c.11901G>A	NP_619639.3:p.Val3967=
ENST00000371117.7:c.11901G>A	ENSP00000360158.3:p.Val3967=
XM_011514679.1:c.11901G>A	XP_011512981.1:p.Val3967=
XM_011514680.1:c.11901G>A	XP_011512982.1:p.Val3967=
XM_011514680.3:c.11901G>A	XP_011512982.1:p.Val3967=
XM_011514681.1:c.11772G>A	XP_011512983.1:p.Val3924=
XM_011514682.1:c.11763G>A	XP_011512984.1:p.Val3921=
XM_011514682.3:c.11763G>A	XP_011512984.1:p.Val3921=
XM_011514683.1:c.11259G>A	XP_011512985.1:p.Val3753=
XM_011514683.3:c.11259G>A	XP_011512985.1:p.Val3753=
XM_011514684.1:c.11190G>A	XP_011512986.1:p.Val3730=
XM_011514684.3:c.11190G>A	XP_011512986.1:p.Val3730=
XM_011514690.1:c.5976G>A	XP_011512992.1:p.Val1992=
XM_011514690.3:c.5976G>A	XP_011512992.1:p.Val1992=
XM_011514691.1:c.5976G>A	XP_011512993.1:p.Val1992=
XM_011514691.3:c.5976G>A	XP_011512993.1:p.Val1992=
XM_017010944.2:c.11901G>A	XP_016866433.1:p.Val3967=
XM_017010945.2:c.11826G>A	XP_016866434.1:p.Val3942=
XM_017010946.2:c.11706G>A	XP_016866435.1:p.Val3902=
XM_017010947.2:c.11637G>A	XP_016866436.1:p.Val3879=
XM_017010948.2:c.11190G>A	XP_016866437.1:p.Val3730=
XM_017010949.2:c.10041G>A	XP_016866438.1:p.Val3347=