Canonical Allele Identifier: CA364430266

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523862T>G (hg19) ; chr6:g.51659064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659064T>G , CM000668.2:g.51659064T>G	GRCh38
NC_000006.11:g.51523862T>G , CM000668.1:g.51523862T>G	GRCh37
NC_000006.10:g.51631821T>G	NCBI36
NG_008753.1:g.433562A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11062A>C MANE Select	ENSP00000360158.3:p.Asn3688His
ENST00000371117.7:c.11062A>C	ENSP00000360158.3:p.Asn3688His
NM_138694.3:c.11062A>C	NP_619639.3:p.Asn3688His
XM_011514679.1:c.11062A>C	XP_011512981.1:p.Asn3688His
XM_011514680.1:c.11062A>C	XP_011512982.1:p.Asn3688His
XM_011514681.1:c.10933A>C	XP_011512983.1:p.Asn3645His
XM_011514682.1:c.10924A>C	XP_011512984.1:p.Asn3642His
XM_011514683.1:c.10420A>C	XP_011512985.1:p.Asn3474His
XM_011514684.1:c.10351A>C	XP_011512986.1:p.Asn3451His
XM_011514687.1:c.10157-9844A>C	XP_011512989.1:n.10157-9844A>C
XM_011514690.1:c.5137A>C	XP_011512992.1:p.Asn1713His
XM_011514691.1:c.5137A>C	XP_011512993.1:p.Asn1713His
XR_926870.1:n.535+6691T>G
XR_926871.1:n.403+6691T>G
XR_926872.1:n.535+6691T>G
XM_011514680.3:c.11062A>C	XP_011512982.1:p.Asn3688His
XM_011514682.3:c.10924A>C	XP_011512984.1:p.Asn3642His
XM_011514683.3:c.10420A>C	XP_011512985.1:p.Asn3474His
XM_011514684.3:c.10351A>C	XP_011512986.1:p.Asn3451His
XM_011514690.3:c.5137A>C	XP_011512992.1:p.Asn1713His
XM_011514691.3:c.5137A>C	XP_011512993.1:p.Asn1713His
XM_017010944.2:c.11062A>C	XP_016866433.1:p.Asn3688His
XM_017010945.2:c.10987A>C	XP_016866434.1:p.Asn3663His
XM_017010946.2:c.10867A>C	XP_016866435.1:p.Asn3623His
XM_017010947.2:c.10798A>C	XP_016866436.1:p.Asn3600His
XM_017010948.2:c.10351A>C	XP_016866437.1:p.Asn3451His
XM_017010949.2:c.9202A>C	XP_016866438.1:p.Asn3068His
XR_001743469.1:n.11338A>C
XR_001744157.1:n.3145+6691T>G
XR_926870.2:n.3145+6691T>G
XR_926871.2:n.3013+6691T>G
XR_926872.2:n.3145+6691T>G
NM_138694.4:c.11062A>C MANE Select	NP_619639.3:p.Asn3688His