Canonical Allele Identifier: CA3851024
Community Standard Title: NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659382C>A , CM000668.2:g.51659382C>A GRCh38
NC_000006.11:g.51524180C>A , CM000668.1:g.51524180C>A GRCh37
NC_000006.10:g.51632139C>A NCBI36
NG_008753.1:g.433244G>T

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.10744G>T MANE Select NP_619639.3:p.Glu3582Ter
ENST00000371117.8:c.10744G>T MANE Select ENSP00000360158.3:p.Glu3582Ter
NM_138694.3:c.10744G>T NP_619639.3:p.Glu3582Ter
ENST00000371117.7:c.10744G>T ENSP00000360158.3:p.Glu3582Ter
XM_011514679.1:c.10744G>T XP_011512981.1:p.Glu3582Ter
XM_011514680.1:c.10744G>T XP_011512982.1:p.Glu3582Ter
XM_011514680.3:c.10744G>T XP_011512982.1:p.Glu3582Ter
XM_011514681.1:c.10615G>T XP_011512983.1:p.Glu3539Ter
XM_011514682.1:c.10606G>T XP_011512984.1:p.Glu3536Ter
XM_011514682.3:c.10606G>T XP_011512984.1:p.Glu3536Ter
XM_011514683.1:c.10102G>T XP_011512985.1:p.Glu3368Ter
XM_011514683.3:c.10102G>T XP_011512985.1:p.Glu3368Ter
XM_011514684.1:c.10033G>T XP_011512986.1:p.Glu3345Ter
XM_011514684.3:c.10033G>T XP_011512986.1:p.Glu3345Ter
XM_011514687.1:c.10157-10162G>T XP_011512989.1:n.10157-10162G>T
XM_011514690.1:c.4819G>T XP_011512992.1:p.Glu1607Ter
XM_011514690.3:c.4819G>T XP_011512992.1:p.Glu1607Ter
XM_011514691.1:c.4819G>T XP_011512993.1:p.Glu1607Ter
XM_011514691.3:c.4819G>T XP_011512993.1:p.Glu1607Ter
XM_017010944.2:c.10744G>T XP_016866433.1:p.Glu3582Ter
XM_017010945.2:c.10669G>T XP_016866434.1:p.Glu3557Ter
XM_017010946.2:c.10549G>T XP_016866435.1:p.Glu3517Ter
XM_017010947.2:c.10480G>T XP_016866436.1:p.Glu3494Ter
XM_017010948.2:c.10033G>T XP_016866437.1:p.Glu3345Ter
XM_017010949.2:c.8884G>T XP_016866438.1:p.Glu2962Ter
XR_001743469.1:n.11020G>T
XR_001744157.1:n.3145+7009C>A
XR_926870.1:n.535+7009C>A
XR_926870.2:n.3145+7009C>A
XR_926871.1:n.403+7009C>A
XR_926871.2:n.3013+7009C>A
XR_926872.1:n.535+7009C>A
XR_926872.2:n.3145+7009C>A