Canonical Allele Identifier: CA364431266
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1365028288
gnomAD v2: 6-51524003-T-G
gnomAD v4: 6-51659205-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659205T>G , CM000668.2:g.51659205T>G GRCh38
NC_000006.11:g.51524003T>G , CM000668.1:g.51524003T>G GRCh37
NC_000006.10:g.51631962T>G NCBI36
NG_008753.1:g.433421A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10921A>C MANE Select ENSP00000360158.3:p.Met3641Leu
ENST00000371117.7:c.10921A>C ENSP00000360158.3:p.Met3641Leu
NM_138694.3:c.10921A>C NP_619639.3:p.Met3641Leu
XM_011514679.1:c.10921A>C XP_011512981.1:p.Met3641Leu
XM_011514680.1:c.10921A>C XP_011512982.1:p.Met3641Leu
XM_011514681.1:c.10792A>C XP_011512983.1:p.Met3598Leu
XM_011514682.1:c.10783A>C XP_011512984.1:p.Met3595Leu
XM_011514683.1:c.10279A>C XP_011512985.1:p.Met3427Leu
XM_011514684.1:c.10210A>C XP_011512986.1:p.Met3404Leu
XM_011514687.1:c.10157-9985A>C XP_011512989.1:n.10157-9985A>C
XM_011514690.1:c.4996A>C XP_011512992.1:p.Met1666Leu
XM_011514691.1:c.4996A>C XP_011512993.1:p.Met1666Leu
XR_926870.1:n.535+6832T>G
XR_926871.1:n.403+6832T>G
XR_926872.1:n.535+6832T>G
XM_011514680.3:c.10921A>C XP_011512982.1:p.Met3641Leu
XM_011514682.3:c.10783A>C XP_011512984.1:p.Met3595Leu
XM_011514683.3:c.10279A>C XP_011512985.1:p.Met3427Leu
XM_011514684.3:c.10210A>C XP_011512986.1:p.Met3404Leu
XM_011514690.3:c.4996A>C XP_011512992.1:p.Met1666Leu
XM_011514691.3:c.4996A>C XP_011512993.1:p.Met1666Leu
XM_017010944.2:c.10921A>C XP_016866433.1:p.Met3641Leu
XM_017010945.2:c.10846A>C XP_016866434.1:p.Met3616Leu
XM_017010946.2:c.10726A>C XP_016866435.1:p.Met3576Leu
XM_017010947.2:c.10657A>C XP_016866436.1:p.Met3553Leu
XM_017010948.2:c.10210A>C XP_016866437.1:p.Met3404Leu
XM_017010949.2:c.9061A>C XP_016866438.1:p.Met3021Leu
XR_001743469.1:n.11197A>C
XR_001744157.1:n.3145+6832T>G
XR_926870.2:n.3145+6832T>G
XR_926871.2:n.3013+6832T>G
XR_926872.2:n.3145+6832T>G
NM_138694.4:c.10921A>C MANE Select NP_619639.3:p.Met3641Leu