Canonical Allele Identifier: CA450613031

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524376T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659578T>C , CM000668.2:g.51659578T>C	GRCh38
NC_000006.11:g.51524376T>C , CM000668.1:g.51524376T>C	GRCh37
NC_000006.10:g.51632335T>C	NCBI36
NG_008753.1:g.433048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10548A>G MANE Select	ENSP00000360158.3:p.Pro3516=
ENST00000371117.7:c.10548A>G	ENSP00000360158.3:p.Pro3516=
NM_138694.3:c.10548A>G	NP_619639.3:p.Pro3516=
XM_011514679.1:c.10548A>G	XP_011512981.1:p.Pro3516=
XM_011514680.1:c.10548A>G	XP_011512982.1:p.Pro3516=
XM_011514681.1:c.10419A>G	XP_011512983.1:p.Pro3473=
XM_011514682.1:c.10410A>G	XP_011512984.1:p.Pro3470=
XM_011514683.1:c.9906A>G	XP_011512985.1:p.Pro3302=
XM_011514684.1:c.9837A>G	XP_011512986.1:p.Pro3279=
XM_011514687.1:c.10157-10358A>G	XP_011512989.1:n.10157-10358A>G
XM_011514690.1:c.4623A>G	XP_011512992.1:p.Pro1541=
XM_011514691.1:c.4623A>G	XP_011512993.1:p.Pro1541=
XR_926870.1:n.535+7205T>C
XR_926871.1:n.403+7205T>C
XR_926872.1:n.535+7205T>C
XM_011514680.3:c.10548A>G	XP_011512982.1:p.Pro3516=
XM_011514682.3:c.10410A>G	XP_011512984.1:p.Pro3470=
XM_011514683.3:c.9906A>G	XP_011512985.1:p.Pro3302=
XM_011514684.3:c.9837A>G	XP_011512986.1:p.Pro3279=
XM_011514690.3:c.4623A>G	XP_011512992.1:p.Pro1541=
XM_011514691.3:c.4623A>G	XP_011512993.1:p.Pro1541=
XM_017010944.2:c.10548A>G	XP_016866433.1:p.Pro3516=
XM_017010945.2:c.10473A>G	XP_016866434.1:p.Pro3491=
XM_017010946.2:c.10353A>G	XP_016866435.1:p.Pro3451=
XM_017010947.2:c.10284A>G	XP_016866436.1:p.Pro3428=
XM_017010948.2:c.9837A>G	XP_016866437.1:p.Pro3279=
XM_017010949.2:c.8688A>G	XP_016866438.1:p.Pro2896=
XR_001743469.1:n.10824A>G
XR_001744157.1:n.3145+7205T>C
XR_926870.2:n.3145+7205T>C
XR_926871.2:n.3013+7205T>C
XR_926872.2:n.3145+7205T>C
NM_138694.4:c.10548A>G MANE Select	NP_619639.3:p.Pro3516=