Canonical Allele Identifier: CA364431102
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2859745
ClinVar RCV Id: RCV003613508

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659189G>C , CM000668.2:g.51659189G>C GRCh38
NC_000006.11:g.51523987G>C , CM000668.1:g.51523987G>C GRCh37
NC_000006.10:g.51631946G>C NCBI36
NG_008753.1:g.433437C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10937C>G MANE Select ENSP00000360158.3:p.Ser3646Ter
ENST00000371117.7:c.10937C>G ENSP00000360158.3:p.Ser3646Ter
NM_138694.3:c.10937C>G NP_619639.3:p.Ser3646Ter
XM_011514679.1:c.10937C>G XP_011512981.1:p.Ser3646Ter
XM_011514680.1:c.10937C>G XP_011512982.1:p.Ser3646Ter
XM_011514681.1:c.10808C>G XP_011512983.1:p.Ser3603Ter
XM_011514682.1:c.10799C>G XP_011512984.1:p.Ser3600Ter
XM_011514683.1:c.10295C>G XP_011512985.1:p.Ser3432Ter
XM_011514684.1:c.10226C>G XP_011512986.1:p.Ser3409Ter
XM_011514687.1:c.10157-9969C>G XP_011512989.1:n.10157-9969C>G
XM_011514690.1:c.5012C>G XP_011512992.1:p.Ser1671Ter
XM_011514691.1:c.5012C>G XP_011512993.1:p.Ser1671Ter
XR_926870.1:n.535+6816G>C
XR_926871.1:n.403+6816G>C
XR_926872.1:n.535+6816G>C
XM_011514680.3:c.10937C>G XP_011512982.1:p.Ser3646Ter
XM_011514682.3:c.10799C>G XP_011512984.1:p.Ser3600Ter
XM_011514683.3:c.10295C>G XP_011512985.1:p.Ser3432Ter
XM_011514684.3:c.10226C>G XP_011512986.1:p.Ser3409Ter
XM_011514690.3:c.5012C>G XP_011512992.1:p.Ser1671Ter
XM_011514691.3:c.5012C>G XP_011512993.1:p.Ser1671Ter
XM_017010944.2:c.10937C>G XP_016866433.1:p.Ser3646Ter
XM_017010945.2:c.10862C>G XP_016866434.1:p.Ser3621Ter
XM_017010946.2:c.10742C>G XP_016866435.1:p.Ser3581Ter
XM_017010947.2:c.10673C>G XP_016866436.1:p.Ser3558Ter
XM_017010948.2:c.10226C>G XP_016866437.1:p.Ser3409Ter
XM_017010949.2:c.9077C>G XP_016866438.1:p.Ser3026Ter
XR_001743469.1:n.11213C>G
XR_001744157.1:n.3145+6816G>C
XR_926870.2:n.3145+6816G>C
XR_926871.2:n.3013+6816G>C
XR_926872.2:n.3145+6816G>C
NM_138694.4:c.10937C>G MANE Select NP_619639.3:p.Ser3646Ter