Canonical Allele Identifier: CA364435258

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659682G>T , CM000668.2:g.51659682G>T	GRCh38
NC_000006.11:g.51524480G>T , CM000668.1:g.51524480G>T	GRCh37
NC_000006.10:g.51632439G>T	NCBI36
NG_008753.1:g.432944C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.10444C>A MANE Select	NP_619639.3:p.Arg3482Ser
ENST00000371117.8:c.10444C>A MANE Select	ENSP00000360158.3:p.Arg3482Ser
NM_138694.3:c.10444C>A	NP_619639.3:p.Arg3482Ser
ENST00000371117.7:c.10444C>A	ENSP00000360158.3:p.Arg3482Ser
XM_011514679.1:c.10444C>A	XP_011512981.1:p.Arg3482Ser
XM_011514680.1:c.10444C>A	XP_011512982.1:p.Arg3482Ser
XM_011514680.3:c.10444C>A	XP_011512982.1:p.Arg3482Ser
XM_011514681.1:c.10315C>A	XP_011512983.1:p.Arg3439Ser
XM_011514682.1:c.10306C>A	XP_011512984.1:p.Arg3436Ser
XM_011514682.3:c.10306C>A	XP_011512984.1:p.Arg3436Ser
XM_011514683.1:c.9802C>A	XP_011512985.1:p.Arg3268Ser
XM_011514683.3:c.9802C>A	XP_011512985.1:p.Arg3268Ser
XM_011514684.1:c.9733C>A	XP_011512986.1:p.Arg3245Ser
XM_011514684.3:c.9733C>A	XP_011512986.1:p.Arg3245Ser
XM_011514687.1:c.10157-10462C>A	XP_011512989.1:n.10157-10462C>A
XM_011514690.1:c.4519C>A	XP_011512992.1:p.Arg1507Ser
XM_011514690.3:c.4519C>A	XP_011512992.1:p.Arg1507Ser
XM_011514691.1:c.4519C>A	XP_011512993.1:p.Arg1507Ser
XM_011514691.3:c.4519C>A	XP_011512993.1:p.Arg1507Ser
XM_017010944.2:c.10444C>A	XP_016866433.1:p.Arg3482Ser
XM_017010945.2:c.10369C>A	XP_016866434.1:p.Arg3457Ser
XM_017010946.2:c.10249C>A	XP_016866435.1:p.Arg3417Ser
XM_017010947.2:c.10180C>A	XP_016866436.1:p.Arg3394Ser
XM_017010948.2:c.9733C>A	XP_016866437.1:p.Arg3245Ser
XM_017010949.2:c.8584C>A	XP_016866438.1:p.Arg2862Ser
XR_001743469.1:n.10720C>A
XR_001744157.1:n.3145+7309G>T
XR_926870.1:n.535+7309G>T
XR_926870.2:n.3145+7309G>T
XR_926871.1:n.403+7309G>T
XR_926871.2:n.3013+7309G>T
XR_926872.1:n.535+7309G>T
XR_926872.2:n.3145+7309G>T