Canonical Allele Identifier: CA450613299

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2999552
• ClinVar RCV Id: RCV003854663
• gnomAD v4: 6-51659719-G-A
• MyVariant Identifiers: chr6:g.51524517G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659719G>A , CM000668.2:g.51659719G>A	GRCh38
NC_000006.11:g.51524517G>A , CM000668.1:g.51524517G>A	GRCh37
NC_000006.10:g.51632476G>A	NCBI36
NG_008753.1:g.432907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10407C>T MANE Select	ENSP00000360158.3:p.Thr3469=
ENST00000371117.7:c.10407C>T	ENSP00000360158.3:p.Thr3469=
NM_138694.3:c.10407C>T	NP_619639.3:p.Thr3469=
XM_011514679.1:c.10407C>T	XP_011512981.1:p.Thr3469=
XM_011514680.1:c.10407C>T	XP_011512982.1:p.Thr3469=
XM_011514681.1:c.10278C>T	XP_011512983.1:p.Thr3426=
XM_011514682.1:c.10269C>T	XP_011512984.1:p.Thr3423=
XM_011514683.1:c.9765C>T	XP_011512985.1:p.Thr3255=
XM_011514684.1:c.9696C>T	XP_011512986.1:p.Thr3232=
XM_011514687.1:c.10157-10499C>T	XP_011512989.1:n.10157-10499C>T
XM_011514690.1:c.4482C>T	XP_011512992.1:p.Thr1494=
XM_011514691.1:c.4482C>T	XP_011512993.1:p.Thr1494=
XR_926870.1:n.535+7346G>A
XR_926871.1:n.403+7346G>A
XR_926872.1:n.535+7346G>A
XM_011514680.3:c.10407C>T	XP_011512982.1:p.Thr3469=
XM_011514682.3:c.10269C>T	XP_011512984.1:p.Thr3423=
XM_011514683.3:c.9765C>T	XP_011512985.1:p.Thr3255=
XM_011514684.3:c.9696C>T	XP_011512986.1:p.Thr3232=
XM_011514690.3:c.4482C>T	XP_011512992.1:p.Thr1494=
XM_011514691.3:c.4482C>T	XP_011512993.1:p.Thr1494=
XM_017010944.2:c.10407C>T	XP_016866433.1:p.Thr3469=
XM_017010945.2:c.10332C>T	XP_016866434.1:p.Thr3444=
XM_017010946.2:c.10212C>T	XP_016866435.1:p.Thr3404=
XM_017010947.2:c.10143C>T	XP_016866436.1:p.Thr3381=
XM_017010948.2:c.9696C>T	XP_016866437.1:p.Thr3232=
XM_017010949.2:c.8547C>T	XP_016866438.1:p.Thr2849=
XR_001743469.1:n.10683C>T
XR_001744157.1:n.3145+7346G>A
XR_926870.2:n.3145+7346G>A
XR_926871.2:n.3013+7346G>A
XR_926872.2:n.3145+7346G>A
NM_138694.4:c.10407C>T MANE Select	NP_619639.3:p.Thr3469=