Canonical Allele Identifier: CA450613262

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 752147
• ClinVar RCV Id: RCV001402449
• dbSNP Id: rs1581895338
• MyVariant Identifiers: chr6:g.51524598G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659800G>A , CM000668.2:g.51659800G>A	GRCh38
NC_000006.11:g.51524598G>A , CM000668.1:g.51524598G>A	GRCh37
NC_000006.10:g.51632557G>A	NCBI36
NG_008753.1:g.432826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10326C>T MANE Select	ENSP00000360158.3:p.Ser3442=
ENST00000371117.7:c.10326C>T	ENSP00000360158.3:p.Ser3442=
NM_138694.3:c.10326C>T	NP_619639.3:p.Ser3442=
XM_011514679.1:c.10326C>T	XP_011512981.1:p.Ser3442=
XM_011514680.1:c.10326C>T	XP_011512982.1:p.Ser3442=
XM_011514681.1:c.10197C>T	XP_011512983.1:p.Ser3399=
XM_011514682.1:c.10188C>T	XP_011512984.1:p.Ser3396=
XM_011514683.1:c.9684C>T	XP_011512985.1:p.Ser3228=
XM_011514684.1:c.9615C>T	XP_011512986.1:p.Ser3205=
XM_011514687.1:c.10157-10580C>T	XP_011512989.1:n.10157-10580C>T
XM_011514690.1:c.4401C>T	XP_011512992.1:p.Ser1467=
XM_011514691.1:c.4401C>T	XP_011512993.1:p.Ser1467=
XR_926870.1:n.535+7427G>A
XR_926871.1:n.403+7427G>A
XR_926872.1:n.535+7427G>A
XM_011514680.3:c.10326C>T	XP_011512982.1:p.Ser3442=
XM_011514682.3:c.10188C>T	XP_011512984.1:p.Ser3396=
XM_011514683.3:c.9684C>T	XP_011512985.1:p.Ser3228=
XM_011514684.3:c.9615C>T	XP_011512986.1:p.Ser3205=
XM_011514690.3:c.4401C>T	XP_011512992.1:p.Ser1467=
XM_011514691.3:c.4401C>T	XP_011512993.1:p.Ser1467=
XM_017010944.2:c.10326C>T	XP_016866433.1:p.Ser3442=
XM_017010945.2:c.10251C>T	XP_016866434.1:p.Ser3417=
XM_017010946.2:c.10131C>T	XP_016866435.1:p.Ser3377=
XM_017010947.2:c.10062C>T	XP_016866436.1:p.Ser3354=
XM_017010948.2:c.9615C>T	XP_016866437.1:p.Ser3205=
XM_017010949.2:c.8466C>T	XP_016866438.1:p.Ser2822=
XR_001743469.1:n.10602C>T
XR_001744157.1:n.3145+7427G>A
XR_926870.2:n.3145+7427G>A
XR_926871.2:n.3013+7427G>A
XR_926872.2:n.3145+7427G>A
NM_138694.4:c.10326C>T MANE Select	NP_619639.3:p.Ser3442=