Canonical Allele Identifier: CA3851344
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs761352771
gnomAD v2: 6-51612659-G-A
gnomAD v4: 6-51747861-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51747861G>A , CM000668.2:g.51747861G>A GRCh38
NC_000006.11:g.51612659G>A , CM000668.1:g.51612659G>A GRCh37
NC_000006.10:g.51720618G>A NCBI36
NG_008753.1:g.344765C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9755C>T MANE Select ENSP00000360158.3:p.Pro3252Leu
ENST00000340994.4:c.9755C>T ENSP00000341097.4:p.Pro3252Leu
ENST00000371117.7:c.9755C>T ENSP00000360158.3:p.Pro3252Leu
NM_138694.3:c.9755C>T NP_619639.3:p.Pro3252Leu
NM_170724.2:c.9755C>T NP_733842.2:p.Pro3252Leu
XM_011514679.1:c.9755C>T XP_011512981.1:p.Pro3252Leu
XM_011514680.1:c.9755C>T XP_011512982.1:p.Pro3252Leu
XM_011514681.1:c.9626C>T XP_011512983.1:p.Pro3209Leu
XM_011514682.1:c.9617C>T XP_011512984.1:p.Pro3206Leu
XM_011514683.1:c.9113C>T XP_011512985.1:p.Pro3038Leu
XM_011514684.1:c.9044C>T XP_011512986.1:p.Pro3015Leu
XM_011514685.1:c.9755C>T XP_011512987.1:p.Pro3252Leu
XM_011514686.1:c.9755C>T XP_011512988.1:p.Pro3252Leu
XM_011514687.1:c.9755C>T XP_011512989.1:p.Pro3252Leu
XM_011514688.1:c.9755C>T XP_011512990.1:p.Pro3252Leu
XM_011514690.1:c.3830C>T XP_011512992.1:p.Pro1277Leu
XM_011514691.1:c.3830C>T XP_011512993.1:p.Pro1277Leu
XM_011514680.3:c.9755C>T XP_011512982.1:p.Pro3252Leu
XM_011514682.3:c.9617C>T XP_011512984.1:p.Pro3206Leu
XM_011514683.3:c.9113C>T XP_011512985.1:p.Pro3038Leu
XM_011514684.3:c.9044C>T XP_011512986.1:p.Pro3015Leu
XM_011514686.2:c.9755C>T XP_011512988.1:p.Pro3252Leu
XM_011514688.2:c.9755C>T XP_011512990.1:p.Pro3252Leu
XM_011514690.3:c.3830C>T XP_011512992.1:p.Pro1277Leu
XM_011514691.3:c.3830C>T XP_011512993.1:p.Pro1277Leu
XM_017010944.2:c.9755C>T XP_016866433.1:p.Pro3252Leu
XM_017010945.2:c.9680C>T XP_016866434.1:p.Pro3227Leu
XM_017010946.2:c.9560C>T XP_016866435.1:p.Pro3187Leu
XM_017010947.2:c.9491C>T XP_016866436.1:p.Pro3164Leu
XM_017010948.2:c.9044C>T XP_016866437.1:p.Pro3015Leu
XM_017010949.2:c.7895C>T XP_016866438.1:p.Pro2632Leu
XM_017010950.1:c.9755C>T XP_016866439.1:p.Pro3252Leu
XR_001743469.1:n.10031C>T
NM_138694.4:c.9755C>T MANE Select NP_619639.3:p.Pro3252Leu
NM_170724.3:c.9755C>T NP_733842.2:p.Pro3252Leu