Canonical Allele Identifier: CA274389
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189110
dbSNP Id: rs786204707
gnomAD v4: 6-52043636-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52043636C>T , CM000668.2:g.52043636C>T GRCh38
NC_000006.11:g.51908434C>T , CM000668.1:g.51908434C>T GRCh37
NC_000006.10:g.52016393C>T NCBI36
NG_008753.1:g.48990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.2810G>A MANE Select ENSP00000360158.3:p.Trp937Ter
ENST00000340994.4:c.2810G>A ENSP00000341097.4:p.Trp937Ter
ENST00000371117.7:c.2810G>A ENSP00000360158.3:p.Trp937Ter
NM_138694.3:c.2810G>A NP_619639.3:p.Trp937Ter
NM_170724.2:c.2810G>A NP_733842.2:p.Trp937Ter
XM_011514679.1:c.2810G>A XP_011512981.1:p.Trp937Ter
XM_011514680.1:c.2810G>A XP_011512982.1:p.Trp937Ter
XM_011514681.1:c.2810G>A XP_011512983.1:p.Trp937Ter
XM_011514682.1:c.2810G>A XP_011512984.1:p.Trp937Ter
XM_011514683.1:c.2810G>A XP_011512985.1:p.Trp937Ter
XM_011514684.1:c.2099G>A XP_011512986.1:p.Trp700Ter
XM_011514685.1:c.2810G>A XP_011512987.1:p.Trp937Ter
XM_011514686.1:c.2810G>A XP_011512988.1:p.Trp937Ter
XM_011514687.1:c.2810G>A XP_011512989.1:p.Trp937Ter
XM_011514688.1:c.2810G>A XP_011512990.1:p.Trp937Ter
XM_011514689.1:c.2810G>A XP_011512991.1:p.Trp937Ter
XM_011514680.3:c.2810G>A XP_011512982.1:p.Trp937Ter
XM_011514682.3:c.2810G>A XP_011512984.1:p.Trp937Ter
XM_011514683.3:c.2810G>A XP_011512985.1:p.Trp937Ter
XM_011514684.3:c.2099G>A XP_011512986.1:p.Trp700Ter
XM_011514686.2:c.2810G>A XP_011512988.1:p.Trp937Ter
XM_011514688.2:c.2810G>A XP_011512990.1:p.Trp937Ter
XM_017010944.2:c.2810G>A XP_016866433.1:p.Trp937Ter
XM_017010945.2:c.2735G>A XP_016866434.1:p.Trp912Ter
XM_017010946.2:c.2810G>A XP_016866435.1:p.Trp937Ter
XM_017010947.2:c.2810G>A XP_016866436.1:p.Trp937Ter
XM_017010948.2:c.2099G>A XP_016866437.1:p.Trp700Ter
XM_017010949.2:c.950G>A XP_016866438.1:p.Trp317Ter
XM_017010950.1:c.2810G>A XP_016866439.1:p.Trp937Ter
XM_017010951.1:c.2810G>A XP_016866440.1:p.Trp937Ter
XM_017010952.1:c.2810G>A XP_016866441.1:p.Trp937Ter
XR_001743469.1:n.3086G>A
NM_138694.4:c.2810G>A MANE Select NP_619639.3:p.Trp937Ter
NM_170724.3:c.2810G>A NP_733842.2:p.Trp937Ter