Canonical Allele Identifier: CA364430205

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659054-T-C
• MyVariant Identifiers: chr6:g.51523852T>C (hg19) ; chr6:g.51659054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659054T>C , CM000668.2:g.51659054T>C	GRCh38
NC_000006.11:g.51523852T>C , CM000668.1:g.51523852T>C	GRCh37
NC_000006.10:g.51631811T>C	NCBI36
NG_008753.1:g.433572A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11072A>G MANE Select	ENSP00000360158.3:p.His3691Arg
ENST00000371117.7:c.11072A>G	ENSP00000360158.3:p.His3691Arg
NM_138694.3:c.11072A>G	NP_619639.3:p.His3691Arg
XM_011514679.1:c.11072A>G	XP_011512981.1:p.His3691Arg
XM_011514680.1:c.11072A>G	XP_011512982.1:p.His3691Arg
XM_011514681.1:c.10943A>G	XP_011512983.1:p.His3648Arg
XM_011514682.1:c.10934A>G	XP_011512984.1:p.His3645Arg
XM_011514683.1:c.10430A>G	XP_011512985.1:p.His3477Arg
XM_011514684.1:c.10361A>G	XP_011512986.1:p.His3454Arg
XM_011514687.1:c.10157-9834A>G	XP_011512989.1:n.10157-9834A>G
XM_011514690.1:c.5147A>G	XP_011512992.1:p.His1716Arg
XM_011514691.1:c.5147A>G	XP_011512993.1:p.His1716Arg
XR_926870.1:n.535+6681T>C
XR_926871.1:n.403+6681T>C
XR_926872.1:n.535+6681T>C
XM_011514680.3:c.11072A>G	XP_011512982.1:p.His3691Arg
XM_011514682.3:c.10934A>G	XP_011512984.1:p.His3645Arg
XM_011514683.3:c.10430A>G	XP_011512985.1:p.His3477Arg
XM_011514684.3:c.10361A>G	XP_011512986.1:p.His3454Arg
XM_011514690.3:c.5147A>G	XP_011512992.1:p.His1716Arg
XM_011514691.3:c.5147A>G	XP_011512993.1:p.His1716Arg
XM_017010944.2:c.11072A>G	XP_016866433.1:p.His3691Arg
XM_017010945.2:c.10997A>G	XP_016866434.1:p.His3666Arg
XM_017010946.2:c.10877A>G	XP_016866435.1:p.His3626Arg
XM_017010947.2:c.10808A>G	XP_016866436.1:p.His3603Arg
XM_017010948.2:c.10361A>G	XP_016866437.1:p.His3454Arg
XM_017010949.2:c.9212A>G	XP_016866438.1:p.His3071Arg
XR_001743469.1:n.11348A>G
XR_001744157.1:n.3145+6681T>C
XR_926870.2:n.3145+6681T>C
XR_926871.2:n.3013+6681T>C
XR_926872.2:n.3145+6681T>C
NM_138694.4:c.11072A>G MANE Select	NP_619639.3:p.His3691Arg