Canonical Allele Identifier: CA364429729

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51658962-T-A
• MyVariant Identifiers: chr6:g.51523760T>A (hg19) ; chr6:g.51658962T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51658962T>A , CM000668.2:g.51658962T>A	GRCh38
NC_000006.11:g.51523760T>A , CM000668.1:g.51523760T>A	GRCh37
NC_000006.10:g.51631719T>A	NCBI36
NG_008753.1:g.433664A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11164A>T MANE Select	ENSP00000360158.3:p.Ile3722Phe
ENST00000371117.7:c.11164A>T	ENSP00000360158.3:p.Ile3722Phe
NM_138694.3:c.11164A>T	NP_619639.3:p.Ile3722Phe
XM_011514679.1:c.11164A>T	XP_011512981.1:p.Ile3722Phe
XM_011514680.1:c.11164A>T	XP_011512982.1:p.Ile3722Phe
XM_011514681.1:c.11035A>T	XP_011512983.1:p.Ile3679Phe
XM_011514682.1:c.11026A>T	XP_011512984.1:p.Ile3676Phe
XM_011514683.1:c.10522A>T	XP_011512985.1:p.Ile3508Phe
XM_011514684.1:c.10453A>T	XP_011512986.1:p.Ile3485Phe
XM_011514687.1:c.10157-9742A>T	XP_011512989.1:n.10157-9742A>T
XM_011514690.1:c.5239A>T	XP_011512992.1:p.Ile1747Phe
XM_011514691.1:c.5239A>T	XP_011512993.1:p.Ile1747Phe
XR_926870.1:n.535+6589T>A
XR_926871.1:n.403+6589T>A
XR_926872.1:n.535+6589T>A
XM_011514680.3:c.11164A>T	XP_011512982.1:p.Ile3722Phe
XM_011514682.3:c.11026A>T	XP_011512984.1:p.Ile3676Phe
XM_011514683.3:c.10522A>T	XP_011512985.1:p.Ile3508Phe
XM_011514684.3:c.10453A>T	XP_011512986.1:p.Ile3485Phe
XM_011514690.3:c.5239A>T	XP_011512992.1:p.Ile1747Phe
XM_011514691.3:c.5239A>T	XP_011512993.1:p.Ile1747Phe
XM_017010944.2:c.11164A>T	XP_016866433.1:p.Ile3722Phe
XM_017010945.2:c.11089A>T	XP_016866434.1:p.Ile3697Phe
XM_017010946.2:c.10969A>T	XP_016866435.1:p.Ile3657Phe
XM_017010947.2:c.10900A>T	XP_016866436.1:p.Ile3634Phe
XM_017010948.2:c.10453A>T	XP_016866437.1:p.Ile3485Phe
XM_017010949.2:c.9304A>T	XP_016866438.1:p.Ile3102Phe
XR_001743469.1:n.11440A>T
XR_001744157.1:n.3145+6589T>A
XR_926870.2:n.3145+6589T>A
XR_926871.2:n.3013+6589T>A
XR_926872.2:n.3145+6589T>A
NM_138694.4:c.11164A>T MANE Select	NP_619639.3:p.Ile3722Phe