Canonical Allele Identifier: CA364434128
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs773006043
gnomAD v2: 6-51524375-G-A
gnomAD v4: 6-51659577-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51659577G>A , CM000668.2:g.51659577G>A GRCh38
NC_000006.11:g.51524375G>A , CM000668.1:g.51524375G>A GRCh37
NC_000006.10:g.51632334G>A NCBI36
NG_008753.1:g.433049C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.10549C>T MANE Select ENSP00000360158.3:p.Pro3517Ser
ENST00000371117.7:c.10549C>T ENSP00000360158.3:p.Pro3517Ser
NM_138694.3:c.10549C>T NP_619639.3:p.Pro3517Ser
XM_011514679.1:c.10549C>T XP_011512981.1:p.Pro3517Ser
XM_011514680.1:c.10549C>T XP_011512982.1:p.Pro3517Ser
XM_011514681.1:c.10420C>T XP_011512983.1:p.Pro3474Ser
XM_011514682.1:c.10411C>T XP_011512984.1:p.Pro3471Ser
XM_011514683.1:c.9907C>T XP_011512985.1:p.Pro3303Ser
XM_011514684.1:c.9838C>T XP_011512986.1:p.Pro3280Ser
XM_011514687.1:c.10157-10357C>T XP_011512989.1:n.10157-10357C>T
XM_011514690.1:c.4624C>T XP_011512992.1:p.Pro1542Ser
XM_011514691.1:c.4624C>T XP_011512993.1:p.Pro1542Ser
XR_926870.1:n.535+7204G>A
XR_926871.1:n.403+7204G>A
XR_926872.1:n.535+7204G>A
XM_011514680.3:c.10549C>T XP_011512982.1:p.Pro3517Ser
XM_011514682.3:c.10411C>T XP_011512984.1:p.Pro3471Ser
XM_011514683.3:c.9907C>T XP_011512985.1:p.Pro3303Ser
XM_011514684.3:c.9838C>T XP_011512986.1:p.Pro3280Ser
XM_011514690.3:c.4624C>T XP_011512992.1:p.Pro1542Ser
XM_011514691.3:c.4624C>T XP_011512993.1:p.Pro1542Ser
XM_017010944.2:c.10549C>T XP_016866433.1:p.Pro3517Ser
XM_017010945.2:c.10474C>T XP_016866434.1:p.Pro3492Ser
XM_017010946.2:c.10354C>T XP_016866435.1:p.Pro3452Ser
XM_017010947.2:c.10285C>T XP_016866436.1:p.Pro3429Ser
XM_017010948.2:c.9838C>T XP_016866437.1:p.Pro3280Ser
XM_017010949.2:c.8689C>T XP_016866438.1:p.Pro2897Ser
XR_001743469.1:n.10825C>T
XR_001744157.1:n.3145+7204G>A
XR_926870.2:n.3145+7204G>A
XR_926871.2:n.3013+7204G>A
XR_926872.2:n.3145+7204G>A
NM_138694.4:c.10549C>T MANE Select NP_619639.3:p.Pro3517Ser