Canonical Allele Identifier: CA16041044
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370085
ClinVar RCV Id: RCV000410291
dbSNP Id: rs1057516221
MyVariant Identifiers: chr6:g.51751956G>A (hg19) chr6:g.51887158G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51887158G>A , CM000668.2:g.51887158G>A GRCh38
NC_000006.11:g.51751956G>A , CM000668.1:g.51751956G>A GRCh37
NC_000006.10:g.51859915G>A NCBI36
NG_008753.1:g.205468C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.7084C>T MANE Select ENSP00000360158.3:p.Gln2362Ter
ENST00000340994.4:c.7084C>T ENSP00000341097.4:p.Gln2362Ter
ENST00000371117.7:c.7084C>T ENSP00000360158.3:p.Gln2362Ter
NM_138694.3:c.7084C>T NP_619639.3:p.Gln2362Ter
NM_170724.2:c.7084C>T NP_733842.2:p.Gln2362Ter
XM_011514679.1:c.7084C>T XP_011512981.1:p.Gln2362Ter
XM_011514680.1:c.7084C>T XP_011512982.1:p.Gln2362Ter
XM_011514681.1:c.7084C>T XP_011512983.1:p.Gln2362Ter
XM_011514682.1:c.7084C>T XP_011512984.1:p.Gln2362Ter
XM_011514683.1:c.6442C>T XP_011512985.1:p.Gln2148Ter
XM_011514684.1:c.6373C>T XP_011512986.1:p.Gln2125Ter
XM_011514685.1:c.7084C>T XP_011512987.1:p.Gln2362Ter
XM_011514686.1:c.7084C>T XP_011512988.1:p.Gln2362Ter
XM_011514687.1:c.7084C>T XP_011512989.1:p.Gln2362Ter
XM_011514688.1:c.7084C>T XP_011512990.1:p.Gln2362Ter
XM_011514689.1:c.7084C>T XP_011512991.1:p.Gln2362Ter
XM_011514690.1:c.1159C>T XP_011512992.1:p.Gln387Ter
XM_011514691.1:c.1159C>T XP_011512993.1:p.Gln387Ter
XM_011514680.3:c.7084C>T XP_011512982.1:p.Gln2362Ter
XM_011514682.3:c.7084C>T XP_011512984.1:p.Gln2362Ter
XM_011514683.3:c.6442C>T XP_011512985.1:p.Gln2148Ter
XM_011514684.3:c.6373C>T XP_011512986.1:p.Gln2125Ter
XM_011514686.2:c.7084C>T XP_011512988.1:p.Gln2362Ter
XM_011514688.2:c.7084C>T XP_011512990.1:p.Gln2362Ter
XM_011514690.3:c.1159C>T XP_011512992.1:p.Gln387Ter
XM_011514691.3:c.1159C>T XP_011512993.1:p.Gln387Ter
XM_017010944.2:c.7084C>T XP_016866433.1:p.Gln2362Ter
XM_017010945.2:c.7009C>T XP_016866434.1:p.Gln2337Ter
XM_017010946.2:c.7084C>T XP_016866435.1:p.Gln2362Ter
XM_017010947.2:c.6820C>T XP_016866436.1:p.Gln2274Ter
XM_017010948.2:c.6373C>T XP_016866437.1:p.Gln2125Ter
XM_017010949.2:c.5224C>T XP_016866438.1:p.Gln1742Ter
XM_017010950.1:c.7084C>T XP_016866439.1:p.Gln2362Ter
XM_017010951.1:c.7084C>T XP_016866440.1:p.Gln2362Ter
XM_017010952.1:c.7084C>T XP_016866441.1:p.Gln2362Ter
XR_001743469.1:n.7360C>T
NM_138694.4:c.7084C>T MANE Select NP_619639.3:p.Gln2362Ter
NM_170724.3:c.7084C>T NP_733842.2:p.Gln2362Ter
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