Canonical Allele Identifier: CA3851293
Community Standard Title: NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51746806T>C , CM000668.2:g.51746806T>C GRCh38
NC_000006.11:g.51611604T>C , CM000668.1:g.51611604T>C GRCh37
NC_000006.10:g.51719563T>C NCBI36
NG_008753.1:g.345820A>G

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.9913A>G MANE Select NP_619639.3:p.Ile3305Val
ENST00000371117.8:c.9913A>G MANE Select ENSP00000360158.3:p.Ile3305Val
NM_138694.3:c.9913A>G NP_619639.3:p.Ile3305Val
NM_170724.2:c.9913A>G NP_733842.2:p.Ile3305Val
NM_170724.3:c.9913A>G NP_733842.2:p.Ile3305Val
ENST00000340994.4:c.9913A>G ENSP00000341097.4:p.Ile3305Val
ENST00000371117.7:c.9913A>G ENSP00000360158.3:p.Ile3305Val
XM_011514679.1:c.9913A>G XP_011512981.1:p.Ile3305Val
XM_011514680.1:c.9913A>G XP_011512982.1:p.Ile3305Val
XM_011514680.3:c.9913A>G XP_011512982.1:p.Ile3305Val
XM_011514681.1:c.9784A>G XP_011512983.1:p.Ile3262Val
XM_011514682.1:c.9775A>G XP_011512984.1:p.Ile3259Val
XM_011514682.3:c.9775A>G XP_011512984.1:p.Ile3259Val
XM_011514683.1:c.9271A>G XP_011512985.1:p.Ile3091Val
XM_011514683.3:c.9271A>G XP_011512985.1:p.Ile3091Val
XM_011514684.1:c.9202A>G XP_011512986.1:p.Ile3068Val
XM_011514684.3:c.9202A>G XP_011512986.1:p.Ile3068Val
XM_011514685.1:c.9913A>G XP_011512987.1:p.Ile3305Val
XM_011514686.1:c.9913A>G XP_011512988.1:p.Ile3305Val
XM_011514686.2:c.9913A>G XP_011512988.1:p.Ile3305Val
XM_011514687.1:c.9913A>G XP_011512989.1:p.Ile3305Val
XM_011514688.1:c.*60A>G XP_011512990.1:n.*60A>G
XM_011514688.2:c.*60A>G XP_011512990.1:n.*60A>G
XM_011514690.1:c.3988A>G XP_011512992.1:p.Ile1330Val
XM_011514690.3:c.3988A>G XP_011512992.1:p.Ile1330Val
XM_011514691.1:c.3988A>G XP_011512993.1:p.Ile1330Val
XM_011514691.3:c.3988A>G XP_011512993.1:p.Ile1330Val
XM_017010944.2:c.9913A>G XP_016866433.1:p.Ile3305Val
XM_017010945.2:c.9838A>G XP_016866434.1:p.Ile3280Val
XM_017010946.2:c.9718A>G XP_016866435.1:p.Ile3240Val
XM_017010947.2:c.9649A>G XP_016866436.1:p.Ile3217Val
XM_017010948.2:c.9202A>G XP_016866437.1:p.Ile3068Val
XM_017010949.2:c.8053A>G XP_016866438.1:p.Ile2685Val
XM_017010950.1:c.9913A>G XP_016866439.1:p.Ile3305Val
XR_001743469.1:n.10189A>G