Canonical Allele Identifier: CA364437568

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524746T>A (hg19) ; chr6:g.51659948T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659948T>A , CM000668.2:g.51659948T>A	GRCh38
NC_000006.11:g.51524746T>A , CM000668.1:g.51524746T>A	GRCh37
NC_000006.10:g.51632705T>A	NCBI36
NG_008753.1:g.432678A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10178A>T MANE Select	ENSP00000360158.3:p.Lys3393Ile
ENST00000371117.7:c.10178A>T	ENSP00000360158.3:p.Lys3393Ile
NM_138694.3:c.10178A>T	NP_619639.3:p.Lys3393Ile
XM_011514679.1:c.10178A>T	XP_011512981.1:p.Lys3393Ile
XM_011514680.1:c.10178A>T	XP_011512982.1:p.Lys3393Ile
XM_011514681.1:c.10049A>T	XP_011512983.1:p.Lys3350Ile
XM_011514682.1:c.10040A>T	XP_011512984.1:p.Lys3347Ile
XM_011514683.1:c.9536A>T	XP_011512985.1:p.Lys3179Ile
XM_011514684.1:c.9467A>T	XP_011512986.1:p.Lys3156Ile
XM_011514687.1:c.10157-10728A>T	XP_011512989.1:n.10157-10728A>T
XM_011514690.1:c.4253A>T	XP_011512992.1:p.Lys1418Ile
XM_011514691.1:c.4253A>T	XP_011512993.1:p.Lys1418Ile
XR_926870.1:n.535+7575T>A
XR_926871.1:n.403+7575T>A
XR_926872.1:n.535+7575T>A
XM_011514680.3:c.10178A>T	XP_011512982.1:p.Lys3393Ile
XM_011514682.3:c.10040A>T	XP_011512984.1:p.Lys3347Ile
XM_011514683.3:c.9536A>T	XP_011512985.1:p.Lys3179Ile
XM_011514684.3:c.9467A>T	XP_011512986.1:p.Lys3156Ile
XM_011514690.3:c.4253A>T	XP_011512992.1:p.Lys1418Ile
XM_011514691.3:c.4253A>T	XP_011512993.1:p.Lys1418Ile
XM_017010944.2:c.10178A>T	XP_016866433.1:p.Lys3393Ile
XM_017010945.2:c.10103A>T	XP_016866434.1:p.Lys3368Ile
XM_017010946.2:c.9983A>T	XP_016866435.1:p.Lys3328Ile
XM_017010947.2:c.9914A>T	XP_016866436.1:p.Lys3305Ile
XM_017010948.2:c.9467A>T	XP_016866437.1:p.Lys3156Ile
XM_017010949.2:c.8318A>T	XP_016866438.1:p.Lys2773Ile
XR_001743469.1:n.10454A>T
XR_001744157.1:n.3145+7575T>A
XR_926870.2:n.3145+7575T>A
XR_926871.2:n.3013+7575T>A
XR_926872.2:n.3145+7575T>A
NM_138694.4:c.10178A>T MANE Select	NP_619639.3:p.Lys3393Ile