Canonical Allele Identifier: CA3851069

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1097753
• ClinVar RCV Id: RCV001419475
• dbSNP Id: rs772915495
• ExAC: 6:51524451 G / A
• gnomAD v2: 6-51524451-G-A
• gnomAD v4: 6-51659653-G-A
• MyVariant Identifiers: chr6:g.51524451G>A (hg19) ; chr6:g.51659653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659653G>A , CM000668.2:g.51659653G>A	GRCh38
NC_000006.11:g.51524451G>A , CM000668.1:g.51524451G>A	GRCh37
NC_000006.10:g.51632410G>A	NCBI36
NG_008753.1:g.432973C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10473C>T MANE Select	ENSP00000360158.3:p.Thr3491=
ENST00000371117.7:c.10473C>T	ENSP00000360158.3:p.Thr3491=
NM_138694.3:c.10473C>T	NP_619639.3:p.Thr3491=
XM_011514679.1:c.10473C>T	XP_011512981.1:p.Thr3491=
XM_011514680.1:c.10473C>T	XP_011512982.1:p.Thr3491=
XM_011514681.1:c.10344C>T	XP_011512983.1:p.Thr3448=
XM_011514682.1:c.10335C>T	XP_011512984.1:p.Thr3445=
XM_011514683.1:c.9831C>T	XP_011512985.1:p.Thr3277=
XM_011514684.1:c.9762C>T	XP_011512986.1:p.Thr3254=
XM_011514687.1:c.10157-10433C>T	XP_011512989.1:n.10157-10433C>T
XM_011514690.1:c.4548C>T	XP_011512992.1:p.Thr1516=
XM_011514691.1:c.4548C>T	XP_011512993.1:p.Thr1516=
XR_926870.1:n.535+7280G>A
XR_926871.1:n.403+7280G>A
XR_926872.1:n.535+7280G>A
XM_011514680.3:c.10473C>T	XP_011512982.1:p.Thr3491=
XM_011514682.3:c.10335C>T	XP_011512984.1:p.Thr3445=
XM_011514683.3:c.9831C>T	XP_011512985.1:p.Thr3277=
XM_011514684.3:c.9762C>T	XP_011512986.1:p.Thr3254=
XM_011514690.3:c.4548C>T	XP_011512992.1:p.Thr1516=
XM_011514691.3:c.4548C>T	XP_011512993.1:p.Thr1516=
XM_017010944.2:c.10473C>T	XP_016866433.1:p.Thr3491=
XM_017010945.2:c.10398C>T	XP_016866434.1:p.Thr3466=
XM_017010946.2:c.10278C>T	XP_016866435.1:p.Thr3426=
XM_017010947.2:c.10209C>T	XP_016866436.1:p.Thr3403=
XM_017010948.2:c.9762C>T	XP_016866437.1:p.Thr3254=
XM_017010949.2:c.8613C>T	XP_016866438.1:p.Thr2871=
XR_001743469.1:n.10749C>T
XR_001744157.1:n.3145+7280G>A
XR_926870.2:n.3145+7280G>A
XR_926871.2:n.3013+7280G>A
XR_926872.2:n.3145+7280G>A
NM_138694.4:c.10473C>T MANE Select	NP_619639.3:p.Thr3491=