Canonical Allele Identifier: CA364436634

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524638G>T (hg19) ; chr6:g.51659840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659840G>T , CM000668.2:g.51659840G>T	GRCh38
NC_000006.11:g.51524638G>T , CM000668.1:g.51524638G>T	GRCh37
NC_000006.10:g.51632597G>T	NCBI36
NG_008753.1:g.432786C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10286C>A MANE Select	ENSP00000360158.3:p.Pro3429Gln
ENST00000371117.7:c.10286C>A	ENSP00000360158.3:p.Pro3429Gln
NM_138694.3:c.10286C>A	NP_619639.3:p.Pro3429Gln
XM_011514679.1:c.10286C>A	XP_011512981.1:p.Pro3429Gln
XM_011514680.1:c.10286C>A	XP_011512982.1:p.Pro3429Gln
XM_011514681.1:c.10157C>A	XP_011512983.1:p.Pro3386Gln
XM_011514682.1:c.10148C>A	XP_011512984.1:p.Pro3383Gln
XM_011514683.1:c.9644C>A	XP_011512985.1:p.Pro3215Gln
XM_011514684.1:c.9575C>A	XP_011512986.1:p.Pro3192Gln
XM_011514687.1:c.10157-10620C>A	XP_011512989.1:n.10157-10620C>A
XM_011514690.1:c.4361C>A	XP_011512992.1:p.Pro1454Gln
XM_011514691.1:c.4361C>A	XP_011512993.1:p.Pro1454Gln
XR_926870.1:n.535+7467G>T
XR_926871.1:n.403+7467G>T
XR_926872.1:n.535+7467G>T
XM_011514680.3:c.10286C>A	XP_011512982.1:p.Pro3429Gln
XM_011514682.3:c.10148C>A	XP_011512984.1:p.Pro3383Gln
XM_011514683.3:c.9644C>A	XP_011512985.1:p.Pro3215Gln
XM_011514684.3:c.9575C>A	XP_011512986.1:p.Pro3192Gln
XM_011514690.3:c.4361C>A	XP_011512992.1:p.Pro1454Gln
XM_011514691.3:c.4361C>A	XP_011512993.1:p.Pro1454Gln
XM_017010944.2:c.10286C>A	XP_016866433.1:p.Pro3429Gln
XM_017010945.2:c.10211C>A	XP_016866434.1:p.Pro3404Gln
XM_017010946.2:c.10091C>A	XP_016866435.1:p.Pro3364Gln
XM_017010947.2:c.10022C>A	XP_016866436.1:p.Pro3341Gln
XM_017010948.2:c.9575C>A	XP_016866437.1:p.Pro3192Gln
XM_017010949.2:c.8426C>A	XP_016866438.1:p.Pro2809Gln
XR_001743469.1:n.10562C>A
XR_001744157.1:n.3145+7467G>T
XR_926870.2:n.3145+7467G>T
XR_926871.2:n.3013+7467G>T
XR_926872.2:n.3145+7467G>T
NM_138694.4:c.10286C>A MANE Select	NP_619639.3:p.Pro3429Gln