Canonical Allele Identifier: CA364435908

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1878318
• ClinVar RCV Id: RCV002510371
• MyVariant Identifiers: chr6:g.51524536A>T (hg19) ; chr6:g.51659738A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659738A>T , CM000668.2:g.51659738A>T	GRCh38
NC_000006.11:g.51524536A>T , CM000668.1:g.51524536A>T	GRCh37
NC_000006.10:g.51632495A>T	NCBI36
NG_008753.1:g.432888T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10388T>A MANE Select	ENSP00000360158.3:p.Leu3463Ter
ENST00000371117.7:c.10388T>A	ENSP00000360158.3:p.Leu3463Ter
NM_138694.3:c.10388T>A	NP_619639.3:p.Leu3463Ter
XM_011514679.1:c.10388T>A	XP_011512981.1:p.Leu3463Ter
XM_011514680.1:c.10388T>A	XP_011512982.1:p.Leu3463Ter
XM_011514681.1:c.10259T>A	XP_011512983.1:p.Leu3420Ter
XM_011514682.1:c.10250T>A	XP_011512984.1:p.Leu3417Ter
XM_011514683.1:c.9746T>A	XP_011512985.1:p.Leu3249Ter
XM_011514684.1:c.9677T>A	XP_011512986.1:p.Leu3226Ter
XM_011514687.1:c.10157-10518T>A	XP_011512989.1:n.10157-10518T>A
XM_011514690.1:c.4463T>A	XP_011512992.1:p.Leu1488Ter
XM_011514691.1:c.4463T>A	XP_011512993.1:p.Leu1488Ter
XR_926870.1:n.535+7365A>T
XR_926871.1:n.403+7365A>T
XR_926872.1:n.535+7365A>T
XM_011514680.3:c.10388T>A	XP_011512982.1:p.Leu3463Ter
XM_011514682.3:c.10250T>A	XP_011512984.1:p.Leu3417Ter
XM_011514683.3:c.9746T>A	XP_011512985.1:p.Leu3249Ter
XM_011514684.3:c.9677T>A	XP_011512986.1:p.Leu3226Ter
XM_011514690.3:c.4463T>A	XP_011512992.1:p.Leu1488Ter
XM_011514691.3:c.4463T>A	XP_011512993.1:p.Leu1488Ter
XM_017010944.2:c.10388T>A	XP_016866433.1:p.Leu3463Ter
XM_017010945.2:c.10313T>A	XP_016866434.1:p.Leu3438Ter
XM_017010946.2:c.10193T>A	XP_016866435.1:p.Leu3398Ter
XM_017010947.2:c.10124T>A	XP_016866436.1:p.Leu3375Ter
XM_017010948.2:c.9677T>A	XP_016866437.1:p.Leu3226Ter
XM_017010949.2:c.8528T>A	XP_016866438.1:p.Leu2843Ter
XR_001743469.1:n.10664T>A
XR_001744157.1:n.3145+7365A>T
XR_926870.2:n.3145+7365A>T
XR_926871.2:n.3013+7365A>T
XR_926872.2:n.3145+7365A>T
NM_138694.4:c.10388T>A MANE Select	NP_619639.3:p.Leu3463Ter