Canonical Allele Identifier: CA364437694
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1209762
ClinVar RCV Id: RCV001579058
dbSNP Id: rs2150418782

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659966G>A , CM000668.2:g.51659966G>A GRCh38
NC_000006.11:g.51524764G>A , CM000668.1:g.51524764G>A GRCh37
NC_000006.10:g.51632723G>A NCBI36
NG_008753.1:g.432660C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10160C>T MANE Select ENSP00000360158.3:p.Thr3387Ile
ENST00000371117.7:c.10160C>T ENSP00000360158.3:p.Thr3387Ile
NM_138694.3:c.10160C>T NP_619639.3:p.Thr3387Ile
XM_011514679.1:c.10160C>T XP_011512981.1:p.Thr3387Ile
XM_011514680.1:c.10160C>T XP_011512982.1:p.Thr3387Ile
XM_011514681.1:c.10031C>T XP_011512983.1:p.Thr3344Ile
XM_011514682.1:c.10022C>T XP_011512984.1:p.Thr3341Ile
XM_011514683.1:c.9518C>T XP_011512985.1:p.Thr3173Ile
XM_011514684.1:c.9449C>T XP_011512986.1:p.Thr3150Ile
XM_011514687.1:c.10157-10746C>T XP_011512989.1:n.10157-10746C>T
XM_011514690.1:c.4235C>T XP_011512992.1:p.Thr1412Ile
XM_011514691.1:c.4235C>T XP_011512993.1:p.Thr1412Ile
XR_926870.1:n.535+7593G>A
XR_926871.1:n.403+7593G>A
XR_926872.1:n.535+7593G>A
XM_011514680.3:c.10160C>T XP_011512982.1:p.Thr3387Ile
XM_011514682.3:c.10022C>T XP_011512984.1:p.Thr3341Ile
XM_011514683.3:c.9518C>T XP_011512985.1:p.Thr3173Ile
XM_011514684.3:c.9449C>T XP_011512986.1:p.Thr3150Ile
XM_011514690.3:c.4235C>T XP_011512992.1:p.Thr1412Ile
XM_011514691.3:c.4235C>T XP_011512993.1:p.Thr1412Ile
XM_017010944.2:c.10160C>T XP_016866433.1:p.Thr3387Ile
XM_017010945.2:c.10085C>T XP_016866434.1:p.Thr3362Ile
XM_017010946.2:c.9965C>T XP_016866435.1:p.Thr3322Ile
XM_017010947.2:c.9896C>T XP_016866436.1:p.Thr3299Ile
XM_017010948.2:c.9449C>T XP_016866437.1:p.Thr3150Ile
XM_017010949.2:c.8300C>T XP_016866438.1:p.Thr2767Ile
XR_001743469.1:n.10436C>T
XR_001744157.1:n.3145+7593G>A
XR_926870.2:n.3145+7593G>A
XR_926871.2:n.3013+7593G>A
XR_926872.2:n.3145+7593G>A
NM_138694.4:c.10160C>T MANE Select NP_619639.3:p.Thr3387Ile