Canonical Allele Identifier: CA16605053
Community Standard Title: NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51746721C>T , CM000668.2:g.51746721C>T GRCh38
NC_000006.11:g.51611519C>T , CM000668.1:g.51611519C>T GRCh37
NC_000006.10:g.51719478C>T NCBI36
NG_008753.1:g.345905G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.9998G>A MANE Select NP_619639.3:p.Arg3333Lys
ENST00000371117.8:c.9998G>A MANE Select ENSP00000360158.3:p.Arg3333Lys
NM_138694.3:c.9998G>A NP_619639.3:p.Arg3333Lys
NM_170724.2:c.9998G>A NP_733842.2:p.Arg3333Lys
NM_170724.3:c.9998G>A NP_733842.2:p.Arg3333Lys
ENST00000340994.4:c.9998G>A ENSP00000341097.4:p.Arg3333Lys
ENST00000371117.7:c.9998G>A ENSP00000360158.3:p.Arg3333Lys
XM_011514679.1:c.9998G>A XP_011512981.1:p.Arg3333Lys
XM_011514680.1:c.9998G>A XP_011512982.1:p.Arg3333Lys
XM_011514680.3:c.9998G>A XP_011512982.1:p.Arg3333Lys
XM_011514681.1:c.9869G>A XP_011512983.1:p.Arg3290Lys
XM_011514682.1:c.9860G>A XP_011512984.1:p.Arg3287Lys
XM_011514682.3:c.9860G>A XP_011512984.1:p.Arg3287Lys
XM_011514683.1:c.9356G>A XP_011512985.1:p.Arg3119Lys
XM_011514683.3:c.9356G>A XP_011512985.1:p.Arg3119Lys
XM_011514684.1:c.9287G>A XP_011512986.1:p.Arg3096Lys
XM_011514684.3:c.9287G>A XP_011512986.1:p.Arg3096Lys
XM_011514685.1:c.9998G>A XP_011512987.1:p.Arg3333Lys
XM_011514686.1:c.9998G>A XP_011512988.1:p.Arg3333Lys
XM_011514686.2:c.9998G>A XP_011512988.1:p.Arg3333Lys
XM_011514687.1:c.9998G>A XP_011512989.1:p.Arg3333Lys
XM_011514690.1:c.4073G>A XP_011512992.1:p.Arg1358Lys
XM_011514690.3:c.4073G>A XP_011512992.1:p.Arg1358Lys
XM_011514691.1:c.4073G>A XP_011512993.1:p.Arg1358Lys
XM_011514691.3:c.4073G>A XP_011512993.1:p.Arg1358Lys
XM_017010944.2:c.9998G>A XP_016866433.1:p.Arg3333Lys
XM_017010945.2:c.9923G>A XP_016866434.1:p.Arg3308Lys
XM_017010946.2:c.9803G>A XP_016866435.1:p.Arg3268Lys
XM_017010947.2:c.9734G>A XP_016866436.1:p.Arg3245Lys
XM_017010948.2:c.9287G>A XP_016866437.1:p.Arg3096Lys
XM_017010949.2:c.8138G>A XP_016866438.1:p.Arg2713Lys
XM_017010950.1:c.9998G>A XP_016866439.1:p.Arg3333Lys
XR_001743469.1:n.10274G>A