Canonical Allele Identifier: CA364431041

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523978G>T (hg19) ; chr6:g.51659180G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659180G>T , CM000668.2:g.51659180G>T	GRCh38
NC_000006.11:g.51523978G>T , CM000668.1:g.51523978G>T	GRCh37
NC_000006.10:g.51631937G>T	NCBI36
NG_008753.1:g.433446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10946C>A MANE Select	ENSP00000360158.3:p.Ala3649Asp
ENST00000371117.7:c.10946C>A	ENSP00000360158.3:p.Ala3649Asp
NM_138694.3:c.10946C>A	NP_619639.3:p.Ala3649Asp
XM_011514679.1:c.10946C>A	XP_011512981.1:p.Ala3649Asp
XM_011514680.1:c.10946C>A	XP_011512982.1:p.Ala3649Asp
XM_011514681.1:c.10817C>A	XP_011512983.1:p.Ala3606Asp
XM_011514682.1:c.10808C>A	XP_011512984.1:p.Ala3603Asp
XM_011514683.1:c.10304C>A	XP_011512985.1:p.Ala3435Asp
XM_011514684.1:c.10235C>A	XP_011512986.1:p.Ala3412Asp
XM_011514687.1:c.10157-9960C>A	XP_011512989.1:n.10157-9960C>A
XM_011514690.1:c.5021C>A	XP_011512992.1:p.Ala1674Asp
XM_011514691.1:c.5021C>A	XP_011512993.1:p.Ala1674Asp
XR_926870.1:n.535+6807G>T
XR_926871.1:n.403+6807G>T
XR_926872.1:n.535+6807G>T
XM_011514680.3:c.10946C>A	XP_011512982.1:p.Ala3649Asp
XM_011514682.3:c.10808C>A	XP_011512984.1:p.Ala3603Asp
XM_011514683.3:c.10304C>A	XP_011512985.1:p.Ala3435Asp
XM_011514684.3:c.10235C>A	XP_011512986.1:p.Ala3412Asp
XM_011514690.3:c.5021C>A	XP_011512992.1:p.Ala1674Asp
XM_011514691.3:c.5021C>A	XP_011512993.1:p.Ala1674Asp
XM_017010944.2:c.10946C>A	XP_016866433.1:p.Ala3649Asp
XM_017010945.2:c.10871C>A	XP_016866434.1:p.Ala3624Asp
XM_017010946.2:c.10751C>A	XP_016866435.1:p.Ala3584Asp
XM_017010947.2:c.10682C>A	XP_016866436.1:p.Ala3561Asp
XM_017010948.2:c.10235C>A	XP_016866437.1:p.Ala3412Asp
XM_017010949.2:c.9086C>A	XP_016866438.1:p.Ala3029Asp
XR_001743469.1:n.11222C>A
XR_001744157.1:n.3145+6807G>T
XR_926870.2:n.3145+6807G>T
XR_926871.2:n.3013+6807G>T
XR_926872.2:n.3145+6807G>T
NM_138694.4:c.10946C>A MANE Select	NP_619639.3:p.Ala3649Asp