Canonical Allele Identifier: CA450612648

Gene: PKHD1

Linked Data

• dbSNP Id: rs1772363386
• MyVariant Identifiers: chr6:g.51523824C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659026C>T , CM000668.2:g.51659026C>T	GRCh38
NC_000006.11:g.51523824C>T , CM000668.1:g.51523824C>T	GRCh37
NC_000006.10:g.51631783C>T	NCBI36
NG_008753.1:g.433600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11100G>A MANE Select	ENSP00000360158.3:p.Gly3700=
ENST00000371117.7:c.11100G>A	ENSP00000360158.3:p.Gly3700=
NM_138694.3:c.11100G>A	NP_619639.3:p.Gly3700=
XM_011514679.1:c.11100G>A	XP_011512981.1:p.Gly3700=
XM_011514680.1:c.11100G>A	XP_011512982.1:p.Gly3700=
XM_011514681.1:c.10971G>A	XP_011512983.1:p.Gly3657=
XM_011514682.1:c.10962G>A	XP_011512984.1:p.Gly3654=
XM_011514683.1:c.10458G>A	XP_011512985.1:p.Gly3486=
XM_011514684.1:c.10389G>A	XP_011512986.1:p.Gly3463=
XM_011514687.1:c.10157-9806G>A	XP_011512989.1:n.10157-9806G>A
XM_011514690.1:c.5175G>A	XP_011512992.1:p.Gly1725=
XM_011514691.1:c.5175G>A	XP_011512993.1:p.Gly1725=
XR_926870.1:n.535+6653C>T
XR_926871.1:n.403+6653C>T
XR_926872.1:n.535+6653C>T
XM_011514680.3:c.11100G>A	XP_011512982.1:p.Gly3700=
XM_011514682.3:c.10962G>A	XP_011512984.1:p.Gly3654=
XM_011514683.3:c.10458G>A	XP_011512985.1:p.Gly3486=
XM_011514684.3:c.10389G>A	XP_011512986.1:p.Gly3463=
XM_011514690.3:c.5175G>A	XP_011512992.1:p.Gly1725=
XM_011514691.3:c.5175G>A	XP_011512993.1:p.Gly1725=
XM_017010944.2:c.11100G>A	XP_016866433.1:p.Gly3700=
XM_017010945.2:c.11025G>A	XP_016866434.1:p.Gly3675=
XM_017010946.2:c.10905G>A	XP_016866435.1:p.Gly3635=
XM_017010947.2:c.10836G>A	XP_016866436.1:p.Gly3612=
XM_017010948.2:c.10389G>A	XP_016866437.1:p.Gly3463=
XM_017010949.2:c.9240G>A	XP_016866438.1:p.Gly3080=
XR_001743469.1:n.11376G>A
XR_001744157.1:n.3145+6653C>T
XR_926870.2:n.3145+6653C>T
XR_926871.2:n.3013+6653C>T
XR_926872.2:n.3145+6653C>T
NM_138694.4:c.11100G>A MANE Select	NP_619639.3:p.Gly3700=