Canonical Allele Identifier: CA138897463

Gene: PKHD1

Linked Data

• dbSNP Id: rs867327260
• gnomAD v4: 6-51659654-G-A
• MyVariant Identifiers: chr6:g.51524452G>A (hg19) ; chr6:g.51659654G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659654G>A , CM000668.2:g.51659654G>A	GRCh38
NC_000006.11:g.51524452G>A , CM000668.1:g.51524452G>A	GRCh37
NC_000006.10:g.51632411G>A	NCBI36
NG_008753.1:g.432972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10472C>T MANE Select	ENSP00000360158.3:p.Thr3491Ile
ENST00000371117.7:c.10472C>T	ENSP00000360158.3:p.Thr3491Ile
NM_138694.3:c.10472C>T	NP_619639.3:p.Thr3491Ile
XM_011514679.1:c.10472C>T	XP_011512981.1:p.Thr3491Ile
XM_011514680.1:c.10472C>T	XP_011512982.1:p.Thr3491Ile
XM_011514681.1:c.10343C>T	XP_011512983.1:p.Thr3448Ile
XM_011514682.1:c.10334C>T	XP_011512984.1:p.Thr3445Ile
XM_011514683.1:c.9830C>T	XP_011512985.1:p.Thr3277Ile
XM_011514684.1:c.9761C>T	XP_011512986.1:p.Thr3254Ile
XM_011514687.1:c.10157-10434C>T	XP_011512989.1:n.10157-10434C>T
XM_011514690.1:c.4547C>T	XP_011512992.1:p.Thr1516Ile
XM_011514691.1:c.4547C>T	XP_011512993.1:p.Thr1516Ile
XR_926870.1:n.535+7281G>A
XR_926871.1:n.403+7281G>A
XR_926872.1:n.535+7281G>A
XM_011514680.3:c.10472C>T	XP_011512982.1:p.Thr3491Ile
XM_011514682.3:c.10334C>T	XP_011512984.1:p.Thr3445Ile
XM_011514683.3:c.9830C>T	XP_011512985.1:p.Thr3277Ile
XM_011514684.3:c.9761C>T	XP_011512986.1:p.Thr3254Ile
XM_011514690.3:c.4547C>T	XP_011512992.1:p.Thr1516Ile
XM_011514691.3:c.4547C>T	XP_011512993.1:p.Thr1516Ile
XM_017010944.2:c.10472C>T	XP_016866433.1:p.Thr3491Ile
XM_017010945.2:c.10397C>T	XP_016866434.1:p.Thr3466Ile
XM_017010946.2:c.10277C>T	XP_016866435.1:p.Thr3426Ile
XM_017010947.2:c.10208C>T	XP_016866436.1:p.Thr3403Ile
XM_017010948.2:c.9761C>T	XP_016866437.1:p.Thr3254Ile
XM_017010949.2:c.8612C>T	XP_016866438.1:p.Thr2871Ile
XR_001743469.1:n.10748C>T
XR_001744157.1:n.3145+7281G>A
XR_926870.2:n.3145+7281G>A
XR_926871.2:n.3013+7281G>A
XR_926872.2:n.3145+7281G>A
NM_138694.4:c.10472C>T MANE Select	NP_619639.3:p.Thr3491Ile