Canonical Allele Identifier: CA1628440180
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51660035C= , CM000668.2:g.51660035C= GRCh38
NC_000006.11:g.51524833C= , CM000668.1:g.51524833C= GRCh37
NC_000006.10:g.51632792C= NCBI36
NG_008753.1:g.432591G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10157-66G= MANE Select ENSP00000360158.3:n.10157-66G=
ENST00000371117.7:c.10157-66G= ENSP00000360158.3:n.10157-66G=
NM_138694.3:c.10157-66G= NP_619639.3:n.10157-66G=
XM_011514679.1:c.10157-66G= XP_011512981.1:n.10157-66G=
XM_011514680.1:c.10157-66G= XP_011512982.1:n.10157-66G=
XM_011514681.1:c.10028-66G= XP_011512983.1:n.10028-66G=
XM_011514682.1:c.10019-66G= XP_011512984.1:n.10019-66G=
XM_011514683.1:c.9515-66G= XP_011512985.1:n.9515-66G=
XM_011514684.1:c.9446-66G= XP_011512986.1:n.9446-66G=
XM_011514687.1:c.10157-10815G= XP_011512989.1:n.10157-10815G=
XM_011514690.1:c.4232-66G= XP_011512992.1:n.4232-66G=
XM_011514691.1:c.4232-66G= XP_011512993.1:n.4232-66G=
XR_926870.1:n.535+7662C=
XR_926871.1:n.403+7662C=
XR_926872.1:n.535+7662C=
XM_011514680.3:c.10157-66G= XP_011512982.1:n.10157-66G=
XM_011514682.3:c.10019-66G= XP_011512984.1:n.10019-66G=
XM_011514683.3:c.9515-66G= XP_011512985.1:n.9515-66G=
XM_011514684.3:c.9446-66G= XP_011512986.1:n.9446-66G=
XM_011514690.3:c.4232-66G= XP_011512992.1:n.4232-66G=
XM_011514691.3:c.4232-66G= XP_011512993.1:n.4232-66G=
XM_017010944.2:c.10157-66G= XP_016866433.1:n.10157-66G=
XM_017010945.2:c.10082-66G= XP_016866434.1:n.10082-66G=
XM_017010946.2:c.9962-66G= XP_016866435.1:n.9962-66G=
XM_017010947.2:c.9893-66G= XP_016866436.1:n.9893-66G=
XM_017010948.2:c.9446-66G= XP_016866437.1:n.9446-66G=
XM_017010949.2:c.8297-66G= XP_016866438.1:n.8297-66G=
XR_001743469.1:n.10433-66G=
XR_001744157.1:n.3145+7662C=
XR_926870.2:n.3145+7662C=
XR_926871.2:n.3013+7662C=
XR_926872.2:n.3145+7662C=
NM_138694.4:c.10157-66G= MANE Select NP_619639.3:n.10157-66G=