Canonical Allele Identifier: CA364420788

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2677823
• ClinVar RCV Id: RCV003463261
• MyVariant Identifiers: chr6:g.51612846G>A (hg19) ; chr6:g.51748048G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748048G>A , CM000668.2:g.51748048G>A	GRCh38
NC_000006.11:g.51612846G>A , CM000668.1:g.51612846G>A	GRCh37
NC_000006.10:g.51720805G>A	NCBI36
NG_008753.1:g.344578C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9568C>T MANE Select	ENSP00000360158.3:p.Gln3190Ter
ENST00000340994.4:c.9568C>T	ENSP00000341097.4:p.Gln3190Ter
ENST00000371117.7:c.9568C>T	ENSP00000360158.3:p.Gln3190Ter
NM_138694.3:c.9568C>T	NP_619639.3:p.Gln3190Ter
NM_170724.2:c.9568C>T	NP_733842.2:p.Gln3190Ter
XM_011514679.1:c.9568C>T	XP_011512981.1:p.Gln3190Ter
XM_011514680.1:c.9568C>T	XP_011512982.1:p.Gln3190Ter
XM_011514681.1:c.9439C>T	XP_011512983.1:p.Gln3147Ter
XM_011514682.1:c.9430C>T	XP_011512984.1:p.Gln3144Ter
XM_011514683.1:c.8926C>T	XP_011512985.1:p.Gln2976Ter
XM_011514684.1:c.8857C>T	XP_011512986.1:p.Gln2953Ter
XM_011514685.1:c.9568C>T	XP_011512987.1:p.Gln3190Ter
XM_011514686.1:c.9568C>T	XP_011512988.1:p.Gln3190Ter
XM_011514687.1:c.9568C>T	XP_011512989.1:p.Gln3190Ter
XM_011514688.1:c.9568C>T	XP_011512990.1:p.Gln3190Ter
XM_011514690.1:c.3643C>T	XP_011512992.1:p.Gln1215Ter
XM_011514691.1:c.3643C>T	XP_011512993.1:p.Gln1215Ter
XM_011514680.3:c.9568C>T	XP_011512982.1:p.Gln3190Ter
XM_011514682.3:c.9430C>T	XP_011512984.1:p.Gln3144Ter
XM_011514683.3:c.8926C>T	XP_011512985.1:p.Gln2976Ter
XM_011514684.3:c.8857C>T	XP_011512986.1:p.Gln2953Ter
XM_011514686.2:c.9568C>T	XP_011512988.1:p.Gln3190Ter
XM_011514688.2:c.9568C>T	XP_011512990.1:p.Gln3190Ter
XM_011514690.3:c.3643C>T	XP_011512992.1:p.Gln1215Ter
XM_011514691.3:c.3643C>T	XP_011512993.1:p.Gln1215Ter
XM_017010944.2:c.9568C>T	XP_016866433.1:p.Gln3190Ter
XM_017010945.2:c.9493C>T	XP_016866434.1:p.Gln3165Ter
XM_017010946.2:c.9373C>T	XP_016866435.1:p.Gln3125Ter
XM_017010947.2:c.9304C>T	XP_016866436.1:p.Gln3102Ter
XM_017010948.2:c.8857C>T	XP_016866437.1:p.Gln2953Ter
XM_017010949.2:c.7708C>T	XP_016866438.1:p.Gln2570Ter
XM_017010950.1:c.9568C>T	XP_016866439.1:p.Gln3190Ter
XR_001743469.1:n.9844C>T
NM_138694.4:c.9568C>T MANE Select	NP_619639.3:p.Gln3190Ter
NM_170724.3:c.9568C>T	NP_733842.2:p.Gln3190Ter