Canonical Allele Identifier: CA16041037
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370439
ClinVar RCV Id: RCV000411627
dbSNP Id: rs1057516490
MyVariant Identifiers: chr6:g.51712630G>A (hg19) chr6:g.51847832G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51847832G>A , CM000668.2:g.51847832G>A GRCh38
NC_000006.11:g.51712630G>A , CM000668.1:g.51712630G>A GRCh37
NC_000006.10:g.51820589G>A NCBI36
NG_008753.1:g.244794C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.8050C>T MANE Select ENSP00000360158.3:p.Gln2684Ter
ENST00000340994.4:c.8050C>T ENSP00000341097.4:p.Gln2684Ter
ENST00000371117.7:c.8050C>T ENSP00000360158.3:p.Gln2684Ter
NM_138694.3:c.8050C>T NP_619639.3:p.Gln2684Ter
NM_170724.2:c.8050C>T NP_733842.2:p.Gln2684Ter
XM_011514679.1:c.8050C>T XP_011512981.1:p.Gln2684Ter
XM_011514680.1:c.8050C>T XP_011512982.1:p.Gln2684Ter
XM_011514681.1:c.8050C>T XP_011512983.1:p.Gln2684Ter
XM_011514682.1:c.8050C>T XP_011512984.1:p.Gln2684Ter
XM_011514683.1:c.7408C>T XP_011512985.1:p.Gln2470Ter
XM_011514684.1:c.7339C>T XP_011512986.1:p.Gln2447Ter
XM_011514685.1:c.8050C>T XP_011512987.1:p.Gln2684Ter
XM_011514686.1:c.8050C>T XP_011512988.1:p.Gln2684Ter
XM_011514687.1:c.8050C>T XP_011512989.1:p.Gln2684Ter
XM_011514688.1:c.8050C>T XP_011512990.1:p.Gln2684Ter
XM_011514689.1:c.8050C>T XP_011512991.1:p.Gln2684Ter
XM_011514690.1:c.2125C>T XP_011512992.1:p.Gln709Ter
XM_011514691.1:c.2125C>T XP_011512993.1:p.Gln709Ter
XM_011514680.3:c.8050C>T XP_011512982.1:p.Gln2684Ter
XM_011514682.3:c.8050C>T XP_011512984.1:p.Gln2684Ter
XM_011514683.3:c.7408C>T XP_011512985.1:p.Gln2470Ter
XM_011514684.3:c.7339C>T XP_011512986.1:p.Gln2447Ter
XM_011514686.2:c.8050C>T XP_011512988.1:p.Gln2684Ter
XM_011514688.2:c.8050C>T XP_011512990.1:p.Gln2684Ter
XM_011514690.3:c.2125C>T XP_011512992.1:p.Gln709Ter
XM_011514691.3:c.2125C>T XP_011512993.1:p.Gln709Ter
XM_017010944.2:c.8050C>T XP_016866433.1:p.Gln2684Ter
XM_017010945.2:c.7975C>T XP_016866434.1:p.Gln2659Ter
XM_017010946.2:c.8050C>T XP_016866435.1:p.Gln2684Ter
XM_017010947.2:c.7786C>T XP_016866436.1:p.Gln2596Ter
XM_017010948.2:c.7339C>T XP_016866437.1:p.Gln2447Ter
XM_017010949.2:c.6190C>T XP_016866438.1:p.Gln2064Ter
XM_017010950.1:c.8050C>T XP_016866439.1:p.Gln2684Ter
XM_017010951.1:c.8050C>T XP_016866440.1:p.Gln2684Ter
XM_017010952.1:c.8050C>T XP_016866441.1:p.Gln2684Ter
XR_001743469.1:n.8326C>T
NM_138694.4:c.8050C>T MANE Select NP_619639.3:p.Gln2684Ter
NM_170724.3:c.8050C>T NP_733842.2:p.Gln2684Ter
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