Canonical Allele Identifier: CA364418584

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491825G>C (hg19) ; chr6:g.51627027G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627027G>C , CM000668.2:g.51627027G>C	GRCh38
NC_000006.11:g.51491825G>C , CM000668.1:g.51491825G>C	GRCh37
NC_000006.10:g.51599784G>C	NCBI36
NG_008753.1:g.465599C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11755C>G MANE Select	ENSP00000360158.3:p.Pro3919Ala
ENST00000371117.7:c.11755C>G	ENSP00000360158.3:p.Pro3919Ala
NM_138694.3:c.11755C>G	NP_619639.3:p.Pro3919Ala
XM_011514679.1:c.11755C>G	XP_011512981.1:p.Pro3919Ala
XM_011514680.1:c.11755C>G	XP_011512982.1:p.Pro3919Ala
XM_011514681.1:c.11626C>G	XP_011512983.1:p.Pro3876Ala
XM_011514682.1:c.11617C>G	XP_011512984.1:p.Pro3873Ala
XM_011514683.1:c.11113C>G	XP_011512985.1:p.Pro3705Ala
XM_011514684.1:c.11044C>G	XP_011512986.1:p.Pro3682Ala
XM_011514690.1:c.5830C>G	XP_011512992.1:p.Pro1944Ala
XM_011514691.1:c.5830C>G	XP_011512993.1:p.Pro1944Ala
XM_011514680.3:c.11755C>G	XP_011512982.1:p.Pro3919Ala
XM_011514682.3:c.11617C>G	XP_011512984.1:p.Pro3873Ala
XM_011514683.3:c.11113C>G	XP_011512985.1:p.Pro3705Ala
XM_011514684.3:c.11044C>G	XP_011512986.1:p.Pro3682Ala
XM_011514690.3:c.5830C>G	XP_011512992.1:p.Pro1944Ala
XM_011514691.3:c.5830C>G	XP_011512993.1:p.Pro1944Ala
XM_017010944.2:c.11755C>G	XP_016866433.1:p.Pro3919Ala
XM_017010945.2:c.11680C>G	XP_016866434.1:p.Pro3894Ala
XM_017010946.2:c.11560C>G	XP_016866435.1:p.Pro3854Ala
XM_017010947.2:c.11491C>G	XP_016866436.1:p.Pro3831Ala
XM_017010948.2:c.11044C>G	XP_016866437.1:p.Pro3682Ala
XM_017010949.2:c.9895C>G	XP_016866438.1:p.Pro3299Ala
NM_138694.4:c.11755C>G MANE Select	NP_619639.3:p.Pro3919Ala