Canonical Allele Identifier: CA275361

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 198314
• ClinVar RCV Id: RCV002267610
• dbSNP Id: rs781368899
• ExAC: 6:51524705 G / A
• gnomAD v2: 6-51524705-G-A
• gnomAD v3: 6-51659907-G-A
• gnomAD v4: 6-51659907-G-A
• MyVariant Identifiers: chr6:g.51524705G>A (hg19) ; chr6:g.51659907G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659907G>A , CM000668.2:g.51659907G>A	GRCh38
NC_000006.11:g.51524705G>A , CM000668.1:g.51524705G>A	GRCh37
NC_000006.10:g.51632664G>A	NCBI36
NG_008753.1:g.432719C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.10219C>T MANE Select	ENSP00000360158.3:p.Gln3407Ter
ENST00000371117.7:c.10219C>T	ENSP00000360158.3:p.Gln3407Ter
NM_138694.3:c.10219C>T	NP_619639.3:p.Gln3407Ter
XM_011514679.1:c.10219C>T	XP_011512981.1:p.Gln3407Ter
XM_011514680.1:c.10219C>T	XP_011512982.1:p.Gln3407Ter
XM_011514681.1:c.10090C>T	XP_011512983.1:p.Gln3364Ter
XM_011514682.1:c.10081C>T	XP_011512984.1:p.Gln3361Ter
XM_011514683.1:c.9577C>T	XP_011512985.1:p.Gln3193Ter
XM_011514684.1:c.9508C>T	XP_011512986.1:p.Gln3170Ter
XM_011514687.1:c.10157-10687C>T	XP_011512989.1:n.10157-10687C>T
XM_011514690.1:c.4294C>T	XP_011512992.1:p.Gln1432Ter
XM_011514691.1:c.4294C>T	XP_011512993.1:p.Gln1432Ter
XR_926870.1:n.535+7534G>A
XR_926871.1:n.403+7534G>A
XR_926872.1:n.535+7534G>A
XM_011514680.3:c.10219C>T	XP_011512982.1:p.Gln3407Ter
XM_011514682.3:c.10081C>T	XP_011512984.1:p.Gln3361Ter
XM_011514683.3:c.9577C>T	XP_011512985.1:p.Gln3193Ter
XM_011514684.3:c.9508C>T	XP_011512986.1:p.Gln3170Ter
XM_011514690.3:c.4294C>T	XP_011512992.1:p.Gln1432Ter
XM_011514691.3:c.4294C>T	XP_011512993.1:p.Gln1432Ter
XM_017010944.2:c.10219C>T	XP_016866433.1:p.Gln3407Ter
XM_017010945.2:c.10144C>T	XP_016866434.1:p.Gln3382Ter
XM_017010946.2:c.10024C>T	XP_016866435.1:p.Gln3342Ter
XM_017010947.2:c.9955C>T	XP_016866436.1:p.Gln3319Ter
XM_017010948.2:c.9508C>T	XP_016866437.1:p.Gln3170Ter
XM_017010949.2:c.8359C>T	XP_016866438.1:p.Gln2787Ter
XR_001743469.1:n.10495C>T
XR_001744157.1:n.3145+7534G>A
XR_926870.2:n.3145+7534G>A
XR_926871.2:n.3013+7534G>A
XR_926872.2:n.3145+7534G>A
NM_138694.4:c.10219C>T MANE Select	NP_619639.3:p.Gln3407Ter