Canonical Allele Identifier: CA3851395
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs753143710
gnomAD v2: 6-51613016-T-C
gnomAD v4: 6-51748218-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51748218T>C , CM000668.2:g.51748218T>C GRCh38
NC_000006.11:g.51613016T>C , CM000668.1:g.51613016T>C GRCh37
NC_000006.10:g.51720975T>C NCBI36
NG_008753.1:g.344408A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.9398A>G MANE Select ENSP00000360158.3:p.Tyr3133Cys
ENST00000340994.4:c.9398A>G ENSP00000341097.4:p.Tyr3133Cys
ENST00000371117.7:c.9398A>G ENSP00000360158.3:p.Tyr3133Cys
NM_138694.3:c.9398A>G NP_619639.3:p.Tyr3133Cys
NM_170724.2:c.9398A>G NP_733842.2:p.Tyr3133Cys
XM_011514679.1:c.9398A>G XP_011512981.1:p.Tyr3133Cys
XM_011514680.1:c.9398A>G XP_011512982.1:p.Tyr3133Cys
XM_011514681.1:c.9269A>G XP_011512983.1:p.Tyr3090Cys
XM_011514682.1:c.9260A>G XP_011512984.1:p.Tyr3087Cys
XM_011514683.1:c.8756A>G XP_011512985.1:p.Tyr2919Cys
XM_011514684.1:c.8687A>G XP_011512986.1:p.Tyr2896Cys
XM_011514685.1:c.9398A>G XP_011512987.1:p.Tyr3133Cys
XM_011514686.1:c.9398A>G XP_011512988.1:p.Tyr3133Cys
XM_011514687.1:c.9398A>G XP_011512989.1:p.Tyr3133Cys
XM_011514688.1:c.9398A>G XP_011512990.1:p.Tyr3133Cys
XM_011514690.1:c.3473A>G XP_011512992.1:p.Tyr1158Cys
XM_011514691.1:c.3473A>G XP_011512993.1:p.Tyr1158Cys
XM_011514680.3:c.9398A>G XP_011512982.1:p.Tyr3133Cys
XM_011514682.3:c.9260A>G XP_011512984.1:p.Tyr3087Cys
XM_011514683.3:c.8756A>G XP_011512985.1:p.Tyr2919Cys
XM_011514684.3:c.8687A>G XP_011512986.1:p.Tyr2896Cys
XM_011514686.2:c.9398A>G XP_011512988.1:p.Tyr3133Cys
XM_011514688.2:c.9398A>G XP_011512990.1:p.Tyr3133Cys
XM_011514690.3:c.3473A>G XP_011512992.1:p.Tyr1158Cys
XM_011514691.3:c.3473A>G XP_011512993.1:p.Tyr1158Cys
XM_017010944.2:c.9398A>G XP_016866433.1:p.Tyr3133Cys
XM_017010945.2:c.9323A>G XP_016866434.1:p.Tyr3108Cys
XM_017010946.2:c.9203A>G XP_016866435.1:p.Tyr3068Cys
XM_017010947.2:c.9134A>G XP_016866436.1:p.Tyr3045Cys
XM_017010948.2:c.8687A>G XP_016866437.1:p.Tyr2896Cys
XM_017010949.2:c.7538A>G XP_016866438.1:p.Tyr2513Cys
XM_017010950.1:c.9398A>G XP_016866439.1:p.Tyr3133Cys
XR_001743469.1:n.9674A>G
NM_138694.4:c.9398A>G MANE Select NP_619639.3:p.Tyr3133Cys
NM_170724.3:c.9398A>G NP_733842.2:p.Tyr3133Cys