Canonical Allele Identifier: CA138897059
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs201828022
gnomAD v3: 6-51659249-G-A
gnomAD v4: 6-51659249-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659249G>A , CM000668.2:g.51659249G>A GRCh38
NC_000006.11:g.51524047G>A , CM000668.1:g.51524047G>A GRCh37
NC_000006.10:g.51632006G>A NCBI36
NG_008753.1:g.433377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10877C>T MANE Select ENSP00000360158.3:p.Thr3626Ile
ENST00000371117.7:c.10877C>T ENSP00000360158.3:p.Thr3626Ile
NM_138694.3:c.10877C>T NP_619639.3:p.Thr3626Ile
XM_011514679.1:c.10877C>T XP_011512981.1:p.Thr3626Ile
XM_011514680.1:c.10877C>T XP_011512982.1:p.Thr3626Ile
XM_011514681.1:c.10748C>T XP_011512983.1:p.Thr3583Ile
XM_011514682.1:c.10739C>T XP_011512984.1:p.Thr3580Ile
XM_011514683.1:c.10235C>T XP_011512985.1:p.Thr3412Ile
XM_011514684.1:c.10166C>T XP_011512986.1:p.Thr3389Ile
XM_011514687.1:c.10157-10029C>T XP_011512989.1:n.10157-10029C>T
XM_011514690.1:c.4952C>T XP_011512992.1:p.Thr1651Ile
XM_011514691.1:c.4952C>T XP_011512993.1:p.Thr1651Ile
XR_926870.1:n.535+6876G>A
XR_926871.1:n.403+6876G>A
XR_926872.1:n.535+6876G>A
XM_011514680.3:c.10877C>T XP_011512982.1:p.Thr3626Ile
XM_011514682.3:c.10739C>T XP_011512984.1:p.Thr3580Ile
XM_011514683.3:c.10235C>T XP_011512985.1:p.Thr3412Ile
XM_011514684.3:c.10166C>T XP_011512986.1:p.Thr3389Ile
XM_011514690.3:c.4952C>T XP_011512992.1:p.Thr1651Ile
XM_011514691.3:c.4952C>T XP_011512993.1:p.Thr1651Ile
XM_017010944.2:c.10877C>T XP_016866433.1:p.Thr3626Ile
XM_017010945.2:c.10802C>T XP_016866434.1:p.Thr3601Ile
XM_017010946.2:c.10682C>T XP_016866435.1:p.Thr3561Ile
XM_017010947.2:c.10613C>T XP_016866436.1:p.Thr3538Ile
XM_017010948.2:c.10166C>T XP_016866437.1:p.Thr3389Ile
XM_017010949.2:c.9017C>T XP_016866438.1:p.Thr3006Ile
XR_001743469.1:n.11153C>T
XR_001744157.1:n.3145+6876G>A
XR_926870.2:n.3145+6876G>A
XR_926871.2:n.3013+6876G>A
XR_926872.2:n.3145+6876G>A
NM_138694.4:c.10877C>T MANE Select NP_619639.3:p.Thr3626Ile