Canonical Allele Identifier: CA243064
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196190
dbSNP Id: rs201123815
gnomAD v2: 6-51897950-C-T
gnomAD v3: 6-52033152-C-T
gnomAD v4: 6-52033152-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52033152C>T , CM000668.2:g.52033152C>T GRCh38
NC_000006.11:g.51897950C>T , CM000668.1:g.51897950C>T GRCh37
NC_000006.10:g.52005909C>T NCBI36
NG_008753.1:g.59474G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.3242G>A MANE Select ENSP00000360158.3:p.Arg1081His
ENST00000340994.4:c.3242G>A ENSP00000341097.4:p.Arg1081His
ENST00000371117.7:c.3242G>A ENSP00000360158.3:p.Arg1081His
NM_138694.3:c.3242G>A NP_619639.3:p.Arg1081His
NM_170724.2:c.3242G>A NP_733842.2:p.Arg1081His
XM_011514679.1:c.3242G>A XP_011512981.1:p.Arg1081His
XM_011514680.1:c.3242G>A XP_011512982.1:p.Arg1081His
XM_011514681.1:c.3242G>A XP_011512983.1:p.Arg1081His
XM_011514682.1:c.3242G>A XP_011512984.1:p.Arg1081His
XM_011514683.1:c.3242G>A XP_011512985.1:p.Arg1081His
XM_011514684.1:c.2531G>A XP_011512986.1:p.Arg844His
XM_011514685.1:c.3242G>A XP_011512987.1:p.Arg1081His
XM_011514686.1:c.3242G>A XP_011512988.1:p.Arg1081His
XM_011514687.1:c.3242G>A XP_011512989.1:p.Arg1081His
XM_011514688.1:c.3242G>A XP_011512990.1:p.Arg1081His
XM_011514689.1:c.3242G>A XP_011512991.1:p.Arg1081His
XM_011514680.3:c.3242G>A XP_011512982.1:p.Arg1081His
XM_011514682.3:c.3242G>A XP_011512984.1:p.Arg1081His
XM_011514683.3:c.3242G>A XP_011512985.1:p.Arg1081His
XM_011514684.3:c.2531G>A XP_011512986.1:p.Arg844His
XM_011514686.2:c.3242G>A XP_011512988.1:p.Arg1081His
XM_011514688.2:c.3242G>A XP_011512990.1:p.Arg1081His
XM_017010944.2:c.3242G>A XP_016866433.1:p.Arg1081His
XM_017010945.2:c.3167G>A XP_016866434.1:p.Arg1056His
XM_017010946.2:c.3242G>A XP_016866435.1:p.Arg1081His
XM_017010947.2:c.3242G>A XP_016866436.1:p.Arg1081His
XM_017010948.2:c.2531G>A XP_016866437.1:p.Arg844His
XM_017010949.2:c.1382G>A XP_016866438.1:p.Arg461His
XM_017010950.1:c.3242G>A XP_016866439.1:p.Arg1081His
XM_017010951.1:c.3242G>A XP_016866440.1:p.Arg1081His
XM_017010952.1:c.3242G>A XP_016866441.1:p.Arg1081His
XR_001743469.1:n.3518G>A
NM_138694.4:c.3242G>A MANE Select NP_619639.3:p.Arg1081His
NM_170724.3:c.3242G>A NP_733842.2:p.Arg1081His