Canonical Allele Identifier: CA364436841
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs1562044017
gnomAD v4: 6-51659861-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659861C>A , CM000668.2:g.51659861C>A GRCh38
NC_000006.11:g.51524659C>A , CM000668.1:g.51524659C>A GRCh37
NC_000006.10:g.51632618C>A NCBI36
NG_008753.1:g.432765G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10265G>T MANE Select ENSP00000360158.3:p.Trp3422Leu
ENST00000371117.7:c.10265G>T ENSP00000360158.3:p.Trp3422Leu
NM_138694.3:c.10265G>T NP_619639.3:p.Trp3422Leu
XM_011514679.1:c.10265G>T XP_011512981.1:p.Trp3422Leu
XM_011514680.1:c.10265G>T XP_011512982.1:p.Trp3422Leu
XM_011514681.1:c.10136G>T XP_011512983.1:p.Trp3379Leu
XM_011514682.1:c.10127G>T XP_011512984.1:p.Trp3376Leu
XM_011514683.1:c.9623G>T XP_011512985.1:p.Trp3208Leu
XM_011514684.1:c.9554G>T XP_011512986.1:p.Trp3185Leu
XM_011514687.1:c.10157-10641G>T XP_011512989.1:n.10157-10641G>T
XM_011514690.1:c.4340G>T XP_011512992.1:p.Trp1447Leu
XM_011514691.1:c.4340G>T XP_011512993.1:p.Trp1447Leu
XR_926870.1:n.535+7488C>A
XR_926871.1:n.403+7488C>A
XR_926872.1:n.535+7488C>A
XM_011514680.3:c.10265G>T XP_011512982.1:p.Trp3422Leu
XM_011514682.3:c.10127G>T XP_011512984.1:p.Trp3376Leu
XM_011514683.3:c.9623G>T XP_011512985.1:p.Trp3208Leu
XM_011514684.3:c.9554G>T XP_011512986.1:p.Trp3185Leu
XM_011514690.3:c.4340G>T XP_011512992.1:p.Trp1447Leu
XM_011514691.3:c.4340G>T XP_011512993.1:p.Trp1447Leu
XM_017010944.2:c.10265G>T XP_016866433.1:p.Trp3422Leu
XM_017010945.2:c.10190G>T XP_016866434.1:p.Trp3397Leu
XM_017010946.2:c.10070G>T XP_016866435.1:p.Trp3357Leu
XM_017010947.2:c.10001G>T XP_016866436.1:p.Trp3334Leu
XM_017010948.2:c.9554G>T XP_016866437.1:p.Trp3185Leu
XM_017010949.2:c.8405G>T XP_016866438.1:p.Trp2802Leu
XR_001743469.1:n.10541G>T
XR_001744157.1:n.3145+7488C>A
XR_926870.2:n.3145+7488C>A
XR_926871.2:n.3013+7488C>A
XR_926872.2:n.3145+7488C>A
NM_138694.4:c.10265G>T MANE Select NP_619639.3:p.Trp3422Leu