Canonical Allele Identifier: CA364435748

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524518G>A (hg19) ; chr6:g.51659720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659720G>A , CM000668.2:g.51659720G>A	GRCh38
NC_000006.11:g.51524518G>A , CM000668.1:g.51524518G>A	GRCh37
NC_000006.10:g.51632477G>A	NCBI36
NG_008753.1:g.432906C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10406C>T MANE Select	ENSP00000360158.3:p.Thr3469Ile
ENST00000371117.7:c.10406C>T	ENSP00000360158.3:p.Thr3469Ile
NM_138694.3:c.10406C>T	NP_619639.3:p.Thr3469Ile
XM_011514679.1:c.10406C>T	XP_011512981.1:p.Thr3469Ile
XM_011514680.1:c.10406C>T	XP_011512982.1:p.Thr3469Ile
XM_011514681.1:c.10277C>T	XP_011512983.1:p.Thr3426Ile
XM_011514682.1:c.10268C>T	XP_011512984.1:p.Thr3423Ile
XM_011514683.1:c.9764C>T	XP_011512985.1:p.Thr3255Ile
XM_011514684.1:c.9695C>T	XP_011512986.1:p.Thr3232Ile
XM_011514687.1:c.10157-10500C>T	XP_011512989.1:n.10157-10500C>T
XM_011514690.1:c.4481C>T	XP_011512992.1:p.Thr1494Ile
XM_011514691.1:c.4481C>T	XP_011512993.1:p.Thr1494Ile
XR_926870.1:n.535+7347G>A
XR_926871.1:n.403+7347G>A
XR_926872.1:n.535+7347G>A
XM_011514680.3:c.10406C>T	XP_011512982.1:p.Thr3469Ile
XM_011514682.3:c.10268C>T	XP_011512984.1:p.Thr3423Ile
XM_011514683.3:c.9764C>T	XP_011512985.1:p.Thr3255Ile
XM_011514684.3:c.9695C>T	XP_011512986.1:p.Thr3232Ile
XM_011514690.3:c.4481C>T	XP_011512992.1:p.Thr1494Ile
XM_011514691.3:c.4481C>T	XP_011512993.1:p.Thr1494Ile
XM_017010944.2:c.10406C>T	XP_016866433.1:p.Thr3469Ile
XM_017010945.2:c.10331C>T	XP_016866434.1:p.Thr3444Ile
XM_017010946.2:c.10211C>T	XP_016866435.1:p.Thr3404Ile
XM_017010947.2:c.10142C>T	XP_016866436.1:p.Thr3381Ile
XM_017010948.2:c.9695C>T	XP_016866437.1:p.Thr3232Ile
XM_017010949.2:c.8546C>T	XP_016866438.1:p.Thr2849Ile
XR_001743469.1:n.10682C>T
XR_001744157.1:n.3145+7347G>A
XR_926870.2:n.3145+7347G>A
XR_926871.2:n.3013+7347G>A
XR_926872.2:n.3145+7347G>A
NM_138694.4:c.10406C>T MANE Select	NP_619639.3:p.Thr3469Ile