Canonical Allele Identifier: CA364430637

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523924C>T (hg19) ; chr6:g.51659126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659126C>T , CM000668.2:g.51659126C>T	GRCh38
NC_000006.11:g.51523924C>T , CM000668.1:g.51523924C>T	GRCh37
NC_000006.10:g.51631883C>T	NCBI36
NG_008753.1:g.433500G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11000G>A MANE Select	ENSP00000360158.3:p.Gly3667Asp
ENST00000371117.7:c.11000G>A	ENSP00000360158.3:p.Gly3667Asp
NM_138694.3:c.11000G>A	NP_619639.3:p.Gly3667Asp
XM_011514679.1:c.11000G>A	XP_011512981.1:p.Gly3667Asp
XM_011514680.1:c.11000G>A	XP_011512982.1:p.Gly3667Asp
XM_011514681.1:c.10871G>A	XP_011512983.1:p.Gly3624Asp
XM_011514682.1:c.10862G>A	XP_011512984.1:p.Gly3621Asp
XM_011514683.1:c.10358G>A	XP_011512985.1:p.Gly3453Asp
XM_011514684.1:c.10289G>A	XP_011512986.1:p.Gly3430Asp
XM_011514687.1:c.10157-9906G>A	XP_011512989.1:n.10157-9906G>A
XM_011514690.1:c.5075G>A	XP_011512992.1:p.Gly1692Asp
XM_011514691.1:c.5075G>A	XP_011512993.1:p.Gly1692Asp
XR_926870.1:n.535+6753C>T
XR_926871.1:n.403+6753C>T
XR_926872.1:n.535+6753C>T
XM_011514680.3:c.11000G>A	XP_011512982.1:p.Gly3667Asp
XM_011514682.3:c.10862G>A	XP_011512984.1:p.Gly3621Asp
XM_011514683.3:c.10358G>A	XP_011512985.1:p.Gly3453Asp
XM_011514684.3:c.10289G>A	XP_011512986.1:p.Gly3430Asp
XM_011514690.3:c.5075G>A	XP_011512992.1:p.Gly1692Asp
XM_011514691.3:c.5075G>A	XP_011512993.1:p.Gly1692Asp
XM_017010944.2:c.11000G>A	XP_016866433.1:p.Gly3667Asp
XM_017010945.2:c.10925G>A	XP_016866434.1:p.Gly3642Asp
XM_017010946.2:c.10805G>A	XP_016866435.1:p.Gly3602Asp
XM_017010947.2:c.10736G>A	XP_016866436.1:p.Gly3579Asp
XM_017010948.2:c.10289G>A	XP_016866437.1:p.Gly3430Asp
XM_017010949.2:c.9140G>A	XP_016866438.1:p.Gly3047Asp
XR_001743469.1:n.11276G>A
XR_001744157.1:n.3145+6753C>T
XR_926870.2:n.3145+6753C>T
XR_926871.2:n.3013+6753C>T
XR_926872.2:n.3145+6753C>T
NM_138694.4:c.11000G>A MANE Select	NP_619639.3:p.Gly3667Asp