Canonical Allele Identifier: CA364426676

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51618028A>C (hg19) ; chr6:g.51753230A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753230A>C , CM000668.2:g.51753230A>C	GRCh38
NC_000006.11:g.51618028A>C , CM000668.1:g.51618028A>C	GRCh37
NC_000006.10:g.51725987A>C	NCBI36
NG_008753.1:g.339396T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8921T>G MANE Select	ENSP00000360158.3:p.Phe2974Cys
ENST00000340994.4:c.8921T>G	ENSP00000341097.4:p.Phe2974Cys
ENST00000371117.7:c.8921T>G	ENSP00000360158.3:p.Phe2974Cys
NM_138694.3:c.8921T>G	NP_619639.3:p.Phe2974Cys
NM_170724.2:c.8921T>G	NP_733842.2:p.Phe2974Cys
XM_011514679.1:c.8921T>G	XP_011512981.1:p.Phe2974Cys
XM_011514680.1:c.8921T>G	XP_011512982.1:p.Phe2974Cys
XM_011514681.1:c.8792T>G	XP_011512983.1:p.Phe2931Cys
XM_011514682.1:c.8783T>G	XP_011512984.1:p.Phe2928Cys
XM_011514683.1:c.8279T>G	XP_011512985.1:p.Phe2760Cys
XM_011514684.1:c.8210T>G	XP_011512986.1:p.Phe2737Cys
XM_011514685.1:c.8921T>G	XP_011512987.1:p.Phe2974Cys
XM_011514686.1:c.8921T>G	XP_011512988.1:p.Phe2974Cys
XM_011514687.1:c.8921T>G	XP_011512989.1:p.Phe2974Cys
XM_011514688.1:c.8921T>G	XP_011512990.1:p.Phe2974Cys
XM_011514690.1:c.2996T>G	XP_011512992.1:p.Phe999Cys
XM_011514691.1:c.2996T>G	XP_011512993.1:p.Phe999Cys
XM_011514680.3:c.8921T>G	XP_011512982.1:p.Phe2974Cys
XM_011514682.3:c.8783T>G	XP_011512984.1:p.Phe2928Cys
XM_011514683.3:c.8279T>G	XP_011512985.1:p.Phe2760Cys
XM_011514684.3:c.8210T>G	XP_011512986.1:p.Phe2737Cys
XM_011514686.2:c.8921T>G	XP_011512988.1:p.Phe2974Cys
XM_011514688.2:c.8921T>G	XP_011512990.1:p.Phe2974Cys
XM_011514690.3:c.2996T>G	XP_011512992.1:p.Phe999Cys
XM_011514691.3:c.2996T>G	XP_011512993.1:p.Phe999Cys
XM_017010944.2:c.8921T>G	XP_016866433.1:p.Phe2974Cys
XM_017010945.2:c.8846T>G	XP_016866434.1:p.Phe2949Cys
XM_017010946.2:c.8726T>G	XP_016866435.1:p.Phe2909Cys
XM_017010947.2:c.8657T>G	XP_016866436.1:p.Phe2886Cys
XM_017010948.2:c.8210T>G	XP_016866437.1:p.Phe2737Cys
XM_017010949.2:c.7061T>G	XP_016866438.1:p.Phe2354Cys
XM_017010950.1:c.8921T>G	XP_016866439.1:p.Phe2974Cys
XR_001743469.1:n.9197T>G
NM_138694.4:c.8921T>G MANE Select	NP_619639.3:p.Phe2974Cys
NM_170724.3:c.8921T>G	NP_733842.2:p.Phe2974Cys