Canonical Allele Identifier: CA450613439

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2771303
• ClinVar RCV Id: RCV003504005
• MyVariant Identifiers: chr6:g.51612631G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51747833G>A , CM000668.2:g.51747833G>A	GRCh38
NC_000006.11:g.51612631G>A , CM000668.1:g.51612631G>A	GRCh37
NC_000006.10:g.51720590G>A	NCBI36
NG_008753.1:g.344793C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9783C>T MANE Select	ENSP00000360158.3:p.His3261=
ENST00000340994.4:c.9783C>T	ENSP00000341097.4:p.His3261=
ENST00000371117.7:c.9783C>T	ENSP00000360158.3:p.His3261=
NM_138694.3:c.9783C>T	NP_619639.3:p.His3261=
NM_170724.2:c.9783C>T	NP_733842.2:p.His3261=
XM_011514679.1:c.9783C>T	XP_011512981.1:p.His3261=
XM_011514680.1:c.9783C>T	XP_011512982.1:p.His3261=
XM_011514681.1:c.9654C>T	XP_011512983.1:p.His3218=
XM_011514682.1:c.9645C>T	XP_011512984.1:p.His3215=
XM_011514683.1:c.9141C>T	XP_011512985.1:p.His3047=
XM_011514684.1:c.9072C>T	XP_011512986.1:p.His3024=
XM_011514685.1:c.9783C>T	XP_011512987.1:p.His3261=
XM_011514686.1:c.9783C>T	XP_011512988.1:p.His3261=
XM_011514687.1:c.9783C>T	XP_011512989.1:p.His3261=
XM_011514688.1:c.9783C>T	XP_011512990.1:p.His3261=
XM_011514690.1:c.3858C>T	XP_011512992.1:p.His1286=
XM_011514691.1:c.3858C>T	XP_011512993.1:p.His1286=
XM_011514680.3:c.9783C>T	XP_011512982.1:p.His3261=
XM_011514682.3:c.9645C>T	XP_011512984.1:p.His3215=
XM_011514683.3:c.9141C>T	XP_011512985.1:p.His3047=
XM_011514684.3:c.9072C>T	XP_011512986.1:p.His3024=
XM_011514686.2:c.9783C>T	XP_011512988.1:p.His3261=
XM_011514688.2:c.9783C>T	XP_011512990.1:p.His3261=
XM_011514690.3:c.3858C>T	XP_011512992.1:p.His1286=
XM_011514691.3:c.3858C>T	XP_011512993.1:p.His1286=
XM_017010944.2:c.9783C>T	XP_016866433.1:p.His3261=
XM_017010945.2:c.9708C>T	XP_016866434.1:p.His3236=
XM_017010946.2:c.9588C>T	XP_016866435.1:p.His3196=
XM_017010947.2:c.9519C>T	XP_016866436.1:p.His3173=
XM_017010948.2:c.9072C>T	XP_016866437.1:p.His3024=
XM_017010949.2:c.7923C>T	XP_016866438.1:p.His2641=
XM_017010950.1:c.9783C>T	XP_016866439.1:p.His3261=
XR_001743469.1:n.10059C>T
NM_138694.4:c.9783C>T MANE Select	NP_619639.3:p.His3261=
NM_170724.3:c.9783C>T	NP_733842.2:p.His3261=