Canonical Allele Identifier: CA275271
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197475
dbSNP Id: rs142526715
gnomAD v2: 6-51768795-C-T
gnomAD v3: 6-51903997-C-T
gnomAD v4: 6-51903997-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51903997C>T , CM000668.2:g.51903997C>T GRCh38
NC_000006.11:g.51768795C>T , CM000668.1:g.51768795C>T GRCh37
NC_000006.10:g.51876754C>T NCBI36
NG_008753.1:g.188629G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.6854G>A MANE Select ENSP00000360158.3:p.Gly2285Glu
ENST00000340994.4:c.6854G>A ENSP00000341097.4:p.Gly2285Glu
ENST00000371117.7:c.6854G>A ENSP00000360158.3:p.Gly2285Glu
NM_138694.3:c.6854G>A NP_619639.3:p.Gly2285Glu
NM_170724.2:c.6854G>A NP_733842.2:p.Gly2285Glu
XM_011514679.1:c.6854G>A XP_011512981.1:p.Gly2285Glu
XM_011514680.1:c.6854G>A XP_011512982.1:p.Gly2285Glu
XM_011514681.1:c.6854G>A XP_011512983.1:p.Gly2285Glu
XM_011514682.1:c.6854G>A XP_011512984.1:p.Gly2285Glu
XM_011514683.1:c.6212G>A XP_011512985.1:p.Gly2071Glu
XM_011514684.1:c.6143G>A XP_011512986.1:p.Gly2048Glu
XM_011514685.1:c.6854G>A XP_011512987.1:p.Gly2285Glu
XM_011514686.1:c.6854G>A XP_011512988.1:p.Gly2285Glu
XM_011514687.1:c.6854G>A XP_011512989.1:p.Gly2285Glu
XM_011514688.1:c.6854G>A XP_011512990.1:p.Gly2285Glu
XM_011514689.1:c.6854G>A XP_011512991.1:p.Gly2285Glu
XM_011514690.1:c.929G>A XP_011512992.1:p.Gly310Glu
XM_011514691.1:c.929G>A XP_011512993.1:p.Gly310Glu
XM_011514680.3:c.6854G>A XP_011512982.1:p.Gly2285Glu
XM_011514682.3:c.6854G>A XP_011512984.1:p.Gly2285Glu
XM_011514683.3:c.6212G>A XP_011512985.1:p.Gly2071Glu
XM_011514684.3:c.6143G>A XP_011512986.1:p.Gly2048Glu
XM_011514686.2:c.6854G>A XP_011512988.1:p.Gly2285Glu
XM_011514688.2:c.6854G>A XP_011512990.1:p.Gly2285Glu
XM_011514690.3:c.929G>A XP_011512992.1:p.Gly310Glu
XM_011514691.3:c.929G>A XP_011512993.1:p.Gly310Glu
XM_017010944.2:c.6854G>A XP_016866433.1:p.Gly2285Glu
XM_017010945.2:c.6779G>A XP_016866434.1:p.Gly2260Glu
XM_017010946.2:c.6854G>A XP_016866435.1:p.Gly2285Glu
XM_017010947.2:c.6590G>A XP_016866436.1:p.Gly2197Glu
XM_017010948.2:c.6143G>A XP_016866437.1:p.Gly2048Glu
XM_017010949.2:c.4994G>A XP_016866438.1:p.Gly1665Glu
XM_017010950.1:c.6854G>A XP_016866439.1:p.Gly2285Glu
XM_017010951.1:c.6854G>A XP_016866440.1:p.Gly2285Glu
XM_017010952.1:c.6854G>A XP_016866441.1:p.Gly2285Glu
XR_001743469.1:n.7130G>A
NM_138694.4:c.6854G>A MANE Select NP_619639.3:p.Gly2285Glu
NM_170724.3:c.6854G>A NP_733842.2:p.Gly2285Glu