Canonical Allele Identifier: CA364434447

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524404T>A (hg19) ; chr6:g.51659606T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659606T>A , CM000668.2:g.51659606T>A	GRCh38
NC_000006.11:g.51524404T>A , CM000668.1:g.51524404T>A	GRCh37
NC_000006.10:g.51632363T>A	NCBI36
NG_008753.1:g.433020A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10520A>T MANE Select	ENSP00000360158.3:p.His3507Leu
ENST00000371117.7:c.10520A>T	ENSP00000360158.3:p.His3507Leu
NM_138694.3:c.10520A>T	NP_619639.3:p.His3507Leu
XM_011514679.1:c.10520A>T	XP_011512981.1:p.His3507Leu
XM_011514680.1:c.10520A>T	XP_011512982.1:p.His3507Leu
XM_011514681.1:c.10391A>T	XP_011512983.1:p.His3464Leu
XM_011514682.1:c.10382A>T	XP_011512984.1:p.His3461Leu
XM_011514683.1:c.9878A>T	XP_011512985.1:p.His3293Leu
XM_011514684.1:c.9809A>T	XP_011512986.1:p.His3270Leu
XM_011514687.1:c.10157-10386A>T	XP_011512989.1:n.10157-10386A>T
XM_011514690.1:c.4595A>T	XP_011512992.1:p.His1532Leu
XM_011514691.1:c.4595A>T	XP_011512993.1:p.His1532Leu
XR_926870.1:n.535+7233T>A
XR_926871.1:n.403+7233T>A
XR_926872.1:n.535+7233T>A
XM_011514680.3:c.10520A>T	XP_011512982.1:p.His3507Leu
XM_011514682.3:c.10382A>T	XP_011512984.1:p.His3461Leu
XM_011514683.3:c.9878A>T	XP_011512985.1:p.His3293Leu
XM_011514684.3:c.9809A>T	XP_011512986.1:p.His3270Leu
XM_011514690.3:c.4595A>T	XP_011512992.1:p.His1532Leu
XM_011514691.3:c.4595A>T	XP_011512993.1:p.His1532Leu
XM_017010944.2:c.10520A>T	XP_016866433.1:p.His3507Leu
XM_017010945.2:c.10445A>T	XP_016866434.1:p.His3482Leu
XM_017010946.2:c.10325A>T	XP_016866435.1:p.His3442Leu
XM_017010947.2:c.10256A>T	XP_016866436.1:p.His3419Leu
XM_017010948.2:c.9809A>T	XP_016866437.1:p.His3270Leu
XM_017010949.2:c.8660A>T	XP_016866438.1:p.His2887Leu
XR_001743469.1:n.10796A>T
XR_001744157.1:n.3145+7233T>A
XR_926870.2:n.3145+7233T>A
XR_926871.2:n.3013+7233T>A
XR_926872.2:n.3145+7233T>A
NM_138694.4:c.10520A>T MANE Select	NP_619639.3:p.His3507Leu