Canonical Allele Identifier: CA3851289
Community Standard Title: NM_138694.4(PKHD1):c.9938G>A (p.Arg3313Lys)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51746781C>T , CM000668.2:g.51746781C>T GRCh38
NC_000006.11:g.51611579C>T , CM000668.1:g.51611579C>T GRCh37
NC_000006.10:g.51719538C>T NCBI36
NG_008753.1:g.345845G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.9938G>A MANE Select NP_619639.3:p.Arg3313Lys
ENST00000371117.8:c.9938G>A MANE Select ENSP00000360158.3:p.Arg3313Lys
NM_138694.3:c.9938G>A NP_619639.3:p.Arg3313Lys
NM_170724.2:c.9938G>A NP_733842.2:p.Arg3313Lys
NM_170724.3:c.9938G>A NP_733842.2:p.Arg3313Lys
ENST00000340994.4:c.9938G>A ENSP00000341097.4:p.Arg3313Lys
ENST00000371117.7:c.9938G>A ENSP00000360158.3:p.Arg3313Lys
XM_011514679.1:c.9938G>A XP_011512981.1:p.Arg3313Lys
XM_011514680.1:c.9938G>A XP_011512982.1:p.Arg3313Lys
XM_011514680.3:c.9938G>A XP_011512982.1:p.Arg3313Lys
XM_011514681.1:c.9809G>A XP_011512983.1:p.Arg3270Lys
XM_011514682.1:c.9800G>A XP_011512984.1:p.Arg3267Lys
XM_011514682.3:c.9800G>A XP_011512984.1:p.Arg3267Lys
XM_011514683.1:c.9296G>A XP_011512985.1:p.Arg3099Lys
XM_011514683.3:c.9296G>A XP_011512985.1:p.Arg3099Lys
XM_011514684.1:c.9227G>A XP_011512986.1:p.Arg3076Lys
XM_011514684.3:c.9227G>A XP_011512986.1:p.Arg3076Lys
XM_011514685.1:c.9938G>A XP_011512987.1:p.Arg3313Lys
XM_011514686.1:c.9938G>A XP_011512988.1:p.Arg3313Lys
XM_011514686.2:c.9938G>A XP_011512988.1:p.Arg3313Lys
XM_011514687.1:c.9938G>A XP_011512989.1:p.Arg3313Lys
XM_011514690.1:c.4013G>A XP_011512992.1:p.Arg1338Lys
XM_011514690.3:c.4013G>A XP_011512992.1:p.Arg1338Lys
XM_011514691.1:c.4013G>A XP_011512993.1:p.Arg1338Lys
XM_011514691.3:c.4013G>A XP_011512993.1:p.Arg1338Lys
XM_017010944.2:c.9938G>A XP_016866433.1:p.Arg3313Lys
XM_017010945.2:c.9863G>A XP_016866434.1:p.Arg3288Lys
XM_017010946.2:c.9743G>A XP_016866435.1:p.Arg3248Lys
XM_017010947.2:c.9674G>A XP_016866436.1:p.Arg3225Lys
XM_017010948.2:c.9227G>A XP_016866437.1:p.Arg3076Lys
XM_017010949.2:c.8078G>A XP_016866438.1:p.Arg2693Lys
XM_017010950.1:c.9938G>A XP_016866439.1:p.Arg3313Lys
XR_001743469.1:n.10214G>A