Canonical Allele Identifier: CA450612675

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659062-A-G
• MyVariant Identifiers: chr6:g.51523860A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659062A>G , CM000668.2:g.51659062A>G	GRCh38
NC_000006.11:g.51523860A>G , CM000668.1:g.51523860A>G	GRCh37
NC_000006.10:g.51631819A>G	NCBI36
NG_008753.1:g.433564T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11064T>C MANE Select	ENSP00000360158.3:p.Asn3688=
ENST00000371117.7:c.11064T>C	ENSP00000360158.3:p.Asn3688=
NM_138694.3:c.11064T>C	NP_619639.3:p.Asn3688=
XM_011514679.1:c.11064T>C	XP_011512981.1:p.Asn3688=
XM_011514680.1:c.11064T>C	XP_011512982.1:p.Asn3688=
XM_011514681.1:c.10935T>C	XP_011512983.1:p.Asn3645=
XM_011514682.1:c.10926T>C	XP_011512984.1:p.Asn3642=
XM_011514683.1:c.10422T>C	XP_011512985.1:p.Asn3474=
XM_011514684.1:c.10353T>C	XP_011512986.1:p.Asn3451=
XM_011514687.1:c.10157-9842T>C	XP_011512989.1:n.10157-9842T>C
XM_011514690.1:c.5139T>C	XP_011512992.1:p.Asn1713=
XM_011514691.1:c.5139T>C	XP_011512993.1:p.Asn1713=
XR_926870.1:n.535+6689A>G
XR_926871.1:n.403+6689A>G
XR_926872.1:n.535+6689A>G
XM_011514680.3:c.11064T>C	XP_011512982.1:p.Asn3688=
XM_011514682.3:c.10926T>C	XP_011512984.1:p.Asn3642=
XM_011514683.3:c.10422T>C	XP_011512985.1:p.Asn3474=
XM_011514684.3:c.10353T>C	XP_011512986.1:p.Asn3451=
XM_011514690.3:c.5139T>C	XP_011512992.1:p.Asn1713=
XM_011514691.3:c.5139T>C	XP_011512993.1:p.Asn1713=
XM_017010944.2:c.11064T>C	XP_016866433.1:p.Asn3688=
XM_017010945.2:c.10989T>C	XP_016866434.1:p.Asn3663=
XM_017010946.2:c.10869T>C	XP_016866435.1:p.Asn3623=
XM_017010947.2:c.10800T>C	XP_016866436.1:p.Asn3600=
XM_017010948.2:c.10353T>C	XP_016866437.1:p.Asn3451=
XM_017010949.2:c.9204T>C	XP_016866438.1:p.Asn3068=
XR_001743469.1:n.11340T>C
XR_001744157.1:n.3145+6689A>G
XR_926870.2:n.3145+6689A>G
XR_926871.2:n.3013+6689A>G
XR_926872.2:n.3145+6689A>G
NM_138694.4:c.11064T>C MANE Select	NP_619639.3:p.Asn3688=