Canonical Allele Identifier: CA364431017
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1220149658
gnomAD v2: 6-51523973-G-A
gnomAD v4: 6-51659175-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659175G>A , CM000668.2:g.51659175G>A GRCh38
NC_000006.11:g.51523973G>A , CM000668.1:g.51523973G>A GRCh37
NC_000006.10:g.51631932G>A NCBI36
NG_008753.1:g.433451C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10951C>T MANE Select ENSP00000360158.3:p.Pro3651Ser
ENST00000371117.7:c.10951C>T ENSP00000360158.3:p.Pro3651Ser
NM_138694.3:c.10951C>T NP_619639.3:p.Pro3651Ser
XM_011514679.1:c.10951C>T XP_011512981.1:p.Pro3651Ser
XM_011514680.1:c.10951C>T XP_011512982.1:p.Pro3651Ser
XM_011514681.1:c.10822C>T XP_011512983.1:p.Pro3608Ser
XM_011514682.1:c.10813C>T XP_011512984.1:p.Pro3605Ser
XM_011514683.1:c.10309C>T XP_011512985.1:p.Pro3437Ser
XM_011514684.1:c.10240C>T XP_011512986.1:p.Pro3414Ser
XM_011514687.1:c.10157-9955C>T XP_011512989.1:n.10157-9955C>T
XM_011514690.1:c.5026C>T XP_011512992.1:p.Pro1676Ser
XM_011514691.1:c.5026C>T XP_011512993.1:p.Pro1676Ser
XR_926870.1:n.535+6802G>A
XR_926871.1:n.403+6802G>A
XR_926872.1:n.535+6802G>A
XM_011514680.3:c.10951C>T XP_011512982.1:p.Pro3651Ser
XM_011514682.3:c.10813C>T XP_011512984.1:p.Pro3605Ser
XM_011514683.3:c.10309C>T XP_011512985.1:p.Pro3437Ser
XM_011514684.3:c.10240C>T XP_011512986.1:p.Pro3414Ser
XM_011514690.3:c.5026C>T XP_011512992.1:p.Pro1676Ser
XM_011514691.3:c.5026C>T XP_011512993.1:p.Pro1676Ser
XM_017010944.2:c.10951C>T XP_016866433.1:p.Pro3651Ser
XM_017010945.2:c.10876C>T XP_016866434.1:p.Pro3626Ser
XM_017010946.2:c.10756C>T XP_016866435.1:p.Pro3586Ser
XM_017010947.2:c.10687C>T XP_016866436.1:p.Pro3563Ser
XM_017010948.2:c.10240C>T XP_016866437.1:p.Pro3414Ser
XM_017010949.2:c.9091C>T XP_016866438.1:p.Pro3031Ser
XR_001743469.1:n.11227C>T
XR_001744157.1:n.3145+6802G>A
XR_926870.2:n.3145+6802G>A
XR_926871.2:n.3013+6802G>A
XR_926872.2:n.3145+6802G>A
NM_138694.4:c.10951C>T MANE Select NP_619639.3:p.Pro3651Ser