Canonical Allele Identifier: CA364436296

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524595A>T (hg19) ; chr6:g.51659797A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659797A>T , CM000668.2:g.51659797A>T	GRCh38
NC_000006.11:g.51524595A>T , CM000668.1:g.51524595A>T	GRCh37
NC_000006.10:g.51632554A>T	NCBI36
NG_008753.1:g.432829T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10329T>A MANE Select	ENSP00000360158.3:p.Ser3443Arg
ENST00000371117.7:c.10329T>A	ENSP00000360158.3:p.Ser3443Arg
NM_138694.3:c.10329T>A	NP_619639.3:p.Ser3443Arg
XM_011514679.1:c.10329T>A	XP_011512981.1:p.Ser3443Arg
XM_011514680.1:c.10329T>A	XP_011512982.1:p.Ser3443Arg
XM_011514681.1:c.10200T>A	XP_011512983.1:p.Ser3400Arg
XM_011514682.1:c.10191T>A	XP_011512984.1:p.Ser3397Arg
XM_011514683.1:c.9687T>A	XP_011512985.1:p.Ser3229Arg
XM_011514684.1:c.9618T>A	XP_011512986.1:p.Ser3206Arg
XM_011514687.1:c.10157-10577T>A	XP_011512989.1:n.10157-10577T>A
XM_011514690.1:c.4404T>A	XP_011512992.1:p.Ser1468Arg
XM_011514691.1:c.4404T>A	XP_011512993.1:p.Ser1468Arg
XR_926870.1:n.535+7424A>T
XR_926871.1:n.403+7424A>T
XR_926872.1:n.535+7424A>T
XM_011514680.3:c.10329T>A	XP_011512982.1:p.Ser3443Arg
XM_011514682.3:c.10191T>A	XP_011512984.1:p.Ser3397Arg
XM_011514683.3:c.9687T>A	XP_011512985.1:p.Ser3229Arg
XM_011514684.3:c.9618T>A	XP_011512986.1:p.Ser3206Arg
XM_011514690.3:c.4404T>A	XP_011512992.1:p.Ser1468Arg
XM_011514691.3:c.4404T>A	XP_011512993.1:p.Ser1468Arg
XM_017010944.2:c.10329T>A	XP_016866433.1:p.Ser3443Arg
XM_017010945.2:c.10254T>A	XP_016866434.1:p.Ser3418Arg
XM_017010946.2:c.10134T>A	XP_016866435.1:p.Ser3378Arg
XM_017010947.2:c.10065T>A	XP_016866436.1:p.Ser3355Arg
XM_017010948.2:c.9618T>A	XP_016866437.1:p.Ser3206Arg
XM_017010949.2:c.8469T>A	XP_016866438.1:p.Ser2823Arg
XR_001743469.1:n.10605T>A
XR_001744157.1:n.3145+7424A>T
XR_926870.2:n.3145+7424A>T
XR_926871.2:n.3013+7424A>T
XR_926872.2:n.3145+7424A>T
NM_138694.4:c.10329T>A MANE Select	NP_619639.3:p.Ser3443Arg