Canonical Allele Identifier: CA138896926

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2858532
• ClinVar RCV Id: RCV003613483
• dbSNP Id: rs1023992997
• MyVariant Identifiers: chr6:g.51523788G>A (hg19) ; chr6:g.51658990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51658990G>A , CM000668.2:g.51658990G>A	GRCh38
NC_000006.11:g.51523788G>A , CM000668.1:g.51523788G>A	GRCh37
NC_000006.10:g.51631747G>A	NCBI36
NG_008753.1:g.433636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11136C>T MANE Select	ENSP00000360158.3:p.Ala3712=
ENST00000371117.7:c.11136C>T	ENSP00000360158.3:p.Ala3712=
NM_138694.3:c.11136C>T	NP_619639.3:p.Ala3712=
XM_011514679.1:c.11136C>T	XP_011512981.1:p.Ala3712=
XM_011514680.1:c.11136C>T	XP_011512982.1:p.Ala3712=
XM_011514681.1:c.11007C>T	XP_011512983.1:p.Ala3669=
XM_011514682.1:c.10998C>T	XP_011512984.1:p.Ala3666=
XM_011514683.1:c.10494C>T	XP_011512985.1:p.Ala3498=
XM_011514684.1:c.10425C>T	XP_011512986.1:p.Ala3475=
XM_011514687.1:c.10157-9770C>T	XP_011512989.1:n.10157-9770C>T
XM_011514690.1:c.5211C>T	XP_011512992.1:p.Ala1737=
XM_011514691.1:c.5211C>T	XP_011512993.1:p.Ala1737=
XR_926870.1:n.535+6617G>A
XR_926871.1:n.403+6617G>A
XR_926872.1:n.535+6617G>A
XM_011514680.3:c.11136C>T	XP_011512982.1:p.Ala3712=
XM_011514682.3:c.10998C>T	XP_011512984.1:p.Ala3666=
XM_011514683.3:c.10494C>T	XP_011512985.1:p.Ala3498=
XM_011514684.3:c.10425C>T	XP_011512986.1:p.Ala3475=
XM_011514690.3:c.5211C>T	XP_011512992.1:p.Ala1737=
XM_011514691.3:c.5211C>T	XP_011512993.1:p.Ala1737=
XM_017010944.2:c.11136C>T	XP_016866433.1:p.Ala3712=
XM_017010945.2:c.11061C>T	XP_016866434.1:p.Ala3687=
XM_017010946.2:c.10941C>T	XP_016866435.1:p.Ala3647=
XM_017010947.2:c.10872C>T	XP_016866436.1:p.Ala3624=
XM_017010948.2:c.10425C>T	XP_016866437.1:p.Ala3475=
XM_017010949.2:c.9276C>T	XP_016866438.1:p.Ala3092=
XR_001743469.1:n.11412C>T
XR_001744157.1:n.3145+6617G>A
XR_926870.2:n.3145+6617G>A
XR_926871.2:n.3013+6617G>A
XR_926872.2:n.3145+6617G>A
NM_138694.4:c.11136C>T MANE Select	NP_619639.3:p.Ala3712=