Canonical Allele Identifier: CA3853792
Gene: PKHD1 HGNC NCBI

Linked Data

dbSNP Id: rs767022821
gnomAD v2: 6-51934313-G-C
gnomAD v4: 6-52069515-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52069515G>C , CM000668.2:g.52069515G>C GRCh38
NC_000006.11:g.51934313G>C , CM000668.1:g.51934313G>C GRCh37
NC_000006.10:g.52042272G>C NCBI36
NG_008753.1:g.23111C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.720C>G MANE Select ENSP00000360158.3:p.His240Gln
ENST00000340994.4:c.720C>G ENSP00000341097.4:p.His240Gln
ENST00000371117.7:c.720C>G ENSP00000360158.3:p.His240Gln
NM_138694.3:c.720C>G NP_619639.3:p.His240Gln
NM_170724.2:c.720C>G NP_733842.2:p.His240Gln
XM_011514679.1:c.720C>G XP_011512981.1:p.His240Gln
XM_011514680.1:c.720C>G XP_011512982.1:p.His240Gln
XM_011514681.1:c.720C>G XP_011512983.1:p.His240Gln
XM_011514682.1:c.720C>G XP_011512984.1:p.His240Gln
XM_011514683.1:c.720C>G XP_011512985.1:p.His240Gln
XM_011514684.1:c.9C>G XP_011512986.1:p.His3Gln
XM_011514685.1:c.720C>G XP_011512987.1:p.His240Gln
XM_011514686.1:c.720C>G XP_011512988.1:p.His240Gln
XM_011514687.1:c.720C>G XP_011512989.1:p.His240Gln
XM_011514688.1:c.720C>G XP_011512990.1:p.His240Gln
XM_011514689.1:c.720C>G XP_011512991.1:p.His240Gln
XR_926869.1:n.389+319G>C
XM_011514680.3:c.720C>G XP_011512982.1:p.His240Gln
XM_011514682.3:c.720C>G XP_011512984.1:p.His240Gln
XM_011514683.3:c.720C>G XP_011512985.1:p.His240Gln
XM_011514684.3:c.9C>G XP_011512986.1:p.His3Gln
XM_011514686.2:c.720C>G XP_011512988.1:p.His240Gln
XM_011514688.2:c.720C>G XP_011512990.1:p.His240Gln
XM_017010944.2:c.720C>G XP_016866433.1:p.His240Gln
XM_017010945.2:c.645C>G XP_016866434.1:p.His215Gln
XM_017010946.2:c.720C>G XP_016866435.1:p.His240Gln
XM_017010947.2:c.720C>G XP_016866436.1:p.His240Gln
XM_017010948.2:c.9C>G XP_016866437.1:p.His3Gln
XM_017010950.1:c.720C>G XP_016866439.1:p.His240Gln
XM_017010951.1:c.720C>G XP_016866440.1:p.His240Gln
XM_017010952.1:c.720C>G XP_016866441.1:p.His240Gln
XR_001743469.1:n.996C>G
NM_138694.4:c.720C>G MANE Select NP_619639.3:p.His240Gln
NM_170724.3:c.720C>G NP_733842.2:p.His240Gln