Canonical Allele Identifier: CA364431351
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1295672080
gnomAD v3: 6-51659219-T-C
gnomAD v4: 6-51659219-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659219T>C , CM000668.2:g.51659219T>C GRCh38
NC_000006.11:g.51524017T>C , CM000668.1:g.51524017T>C GRCh37
NC_000006.10:g.51631976T>C NCBI36
NG_008753.1:g.433407A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10907A>G MANE Select ENSP00000360158.3:p.Gln3636Arg
ENST00000371117.7:c.10907A>G ENSP00000360158.3:p.Gln3636Arg
NM_138694.3:c.10907A>G NP_619639.3:p.Gln3636Arg
XM_011514679.1:c.10907A>G XP_011512981.1:p.Gln3636Arg
XM_011514680.1:c.10907A>G XP_011512982.1:p.Gln3636Arg
XM_011514681.1:c.10778A>G XP_011512983.1:p.Gln3593Arg
XM_011514682.1:c.10769A>G XP_011512984.1:p.Gln3590Arg
XM_011514683.1:c.10265A>G XP_011512985.1:p.Gln3422Arg
XM_011514684.1:c.10196A>G XP_011512986.1:p.Gln3399Arg
XM_011514687.1:c.10157-9999A>G XP_011512989.1:n.10157-9999A>G
XM_011514690.1:c.4982A>G XP_011512992.1:p.Gln1661Arg
XM_011514691.1:c.4982A>G XP_011512993.1:p.Gln1661Arg
XR_926870.1:n.535+6846T>C
XR_926871.1:n.403+6846T>C
XR_926872.1:n.535+6846T>C
XM_011514680.3:c.10907A>G XP_011512982.1:p.Gln3636Arg
XM_011514682.3:c.10769A>G XP_011512984.1:p.Gln3590Arg
XM_011514683.3:c.10265A>G XP_011512985.1:p.Gln3422Arg
XM_011514684.3:c.10196A>G XP_011512986.1:p.Gln3399Arg
XM_011514690.3:c.4982A>G XP_011512992.1:p.Gln1661Arg
XM_011514691.3:c.4982A>G XP_011512993.1:p.Gln1661Arg
XM_017010944.2:c.10907A>G XP_016866433.1:p.Gln3636Arg
XM_017010945.2:c.10832A>G XP_016866434.1:p.Gln3611Arg
XM_017010946.2:c.10712A>G XP_016866435.1:p.Gln3571Arg
XM_017010947.2:c.10643A>G XP_016866436.1:p.Gln3548Arg
XM_017010948.2:c.10196A>G XP_016866437.1:p.Gln3399Arg
XM_017010949.2:c.9047A>G XP_016866438.1:p.Gln3016Arg
XR_001743469.1:n.11183A>G
XR_001744157.1:n.3145+6846T>C
XR_926870.2:n.3145+6846T>C
XR_926871.2:n.3013+6846T>C
XR_926872.2:n.3145+6846T>C
NM_138694.4:c.10907A>G MANE Select NP_619639.3:p.Gln3636Arg