Canonical Allele Identifier: CA450613336

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659889-G-A
• MyVariant Identifiers: chr6:g.51524687G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659889G>A , CM000668.2:g.51659889G>A	GRCh38
NC_000006.11:g.51524687G>A , CM000668.1:g.51524687G>A	GRCh37
NC_000006.10:g.51632646G>A	NCBI36
NG_008753.1:g.432737C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10237C>T MANE Select	ENSP00000360158.3:p.Leu3413=
ENST00000371117.7:c.10237C>T	ENSP00000360158.3:p.Leu3413=
NM_138694.3:c.10237C>T	NP_619639.3:p.Leu3413=
XM_011514679.1:c.10237C>T	XP_011512981.1:p.Leu3413=
XM_011514680.1:c.10237C>T	XP_011512982.1:p.Leu3413=
XM_011514681.1:c.10108C>T	XP_011512983.1:p.Leu3370=
XM_011514682.1:c.10099C>T	XP_011512984.1:p.Leu3367=
XM_011514683.1:c.9595C>T	XP_011512985.1:p.Leu3199=
XM_011514684.1:c.9526C>T	XP_011512986.1:p.Leu3176=
XM_011514687.1:c.10157-10669C>T	XP_011512989.1:n.10157-10669C>T
XM_011514690.1:c.4312C>T	XP_011512992.1:p.Leu1438=
XM_011514691.1:c.4312C>T	XP_011512993.1:p.Leu1438=
XR_926870.1:n.535+7516G>A
XR_926871.1:n.403+7516G>A
XR_926872.1:n.535+7516G>A
XM_011514680.3:c.10237C>T	XP_011512982.1:p.Leu3413=
XM_011514682.3:c.10099C>T	XP_011512984.1:p.Leu3367=
XM_011514683.3:c.9595C>T	XP_011512985.1:p.Leu3199=
XM_011514684.3:c.9526C>T	XP_011512986.1:p.Leu3176=
XM_011514690.3:c.4312C>T	XP_011512992.1:p.Leu1438=
XM_011514691.3:c.4312C>T	XP_011512993.1:p.Leu1438=
XM_017010944.2:c.10237C>T	XP_016866433.1:p.Leu3413=
XM_017010945.2:c.10162C>T	XP_016866434.1:p.Leu3388=
XM_017010946.2:c.10042C>T	XP_016866435.1:p.Leu3348=
XM_017010947.2:c.9973C>T	XP_016866436.1:p.Leu3325=
XM_017010948.2:c.9526C>T	XP_016866437.1:p.Leu3176=
XM_017010949.2:c.8377C>T	XP_016866438.1:p.Leu2793=
XR_001743469.1:n.10513C>T
XR_001744157.1:n.3145+7516G>A
XR_926870.2:n.3145+7516G>A
XR_926871.2:n.3013+7516G>A
XR_926872.2:n.3145+7516G>A
NM_138694.4:c.10237C>T MANE Select	NP_619639.3:p.Leu3413=