Canonical Allele Identifier: CA364422790

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748397C>T , CM000668.2:g.51748397C>T	GRCh38
NC_000006.11:g.51613195C>T , CM000668.1:g.51613195C>T	GRCh37
NC_000006.10:g.51721154C>T	NCBI36
NG_008753.1:g.344229G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.9219G>A MANE Select	NP_619639.3:p.Trp3073Ter
ENST00000371117.8:c.9219G>A MANE Select	ENSP00000360158.3:p.Trp3073Ter
NM_138694.3:c.9219G>A	NP_619639.3:p.Trp3073Ter
NM_170724.2:c.9219G>A	NP_733842.2:p.Trp3073Ter
NM_170724.3:c.9219G>A	NP_733842.2:p.Trp3073Ter
ENST00000340994.4:c.9219G>A	ENSP00000341097.4:p.Trp3073Ter
ENST00000371117.7:c.9219G>A	ENSP00000360158.3:p.Trp3073Ter
XM_011514679.1:c.9219G>A	XP_011512981.1:p.Trp3073Ter
XM_011514680.1:c.9219G>A	XP_011512982.1:p.Trp3073Ter
XM_011514680.3:c.9219G>A	XP_011512982.1:p.Trp3073Ter
XM_011514681.1:c.9090G>A	XP_011512983.1:p.Trp3030Ter
XM_011514682.1:c.9081G>A	XP_011512984.1:p.Trp3027Ter
XM_011514682.3:c.9081G>A	XP_011512984.1:p.Trp3027Ter
XM_011514683.1:c.8577G>A	XP_011512985.1:p.Trp2859Ter
XM_011514683.3:c.8577G>A	XP_011512985.1:p.Trp2859Ter
XM_011514684.1:c.8508G>A	XP_011512986.1:p.Trp2836Ter
XM_011514684.3:c.8508G>A	XP_011512986.1:p.Trp2836Ter
XM_011514685.1:c.9219G>A	XP_011512987.1:p.Trp3073Ter
XM_011514686.1:c.9219G>A	XP_011512988.1:p.Trp3073Ter
XM_011514686.2:c.9219G>A	XP_011512988.1:p.Trp3073Ter
XM_011514687.1:c.9219G>A	XP_011512989.1:p.Trp3073Ter
XM_011514688.1:c.9219G>A	XP_011512990.1:p.Trp3073Ter
XM_011514688.2:c.9219G>A	XP_011512990.1:p.Trp3073Ter
XM_011514690.1:c.3294G>A	XP_011512992.1:p.Trp1098Ter
XM_011514690.3:c.3294G>A	XP_011512992.1:p.Trp1098Ter
XM_011514691.1:c.3294G>A	XP_011512993.1:p.Trp1098Ter
XM_011514691.3:c.3294G>A	XP_011512993.1:p.Trp1098Ter
XM_017010944.2:c.9219G>A	XP_016866433.1:p.Trp3073Ter
XM_017010945.2:c.9144G>A	XP_016866434.1:p.Trp3048Ter
XM_017010946.2:c.9024G>A	XP_016866435.1:p.Trp3008Ter
XM_017010947.2:c.8955G>A	XP_016866436.1:p.Trp2985Ter
XM_017010948.2:c.8508G>A	XP_016866437.1:p.Trp2836Ter
XM_017010949.2:c.7359G>A	XP_016866438.1:p.Trp2453Ter
XM_017010950.1:c.9219G>A	XP_016866439.1:p.Trp3073Ter
XR_001743469.1:n.9495G>A