Canonical Allele Identifier: CA364419178
Community Standard Title: NM_138694.4(PKHD1):c.9998+1G>T
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51746720C>A , CM000668.2:g.51746720C>A GRCh38
NC_000006.11:g.51611518C>A , CM000668.1:g.51611518C>A GRCh37
NC_000006.10:g.51719477C>A NCBI36
NG_008753.1:g.345906G>T

Transcript Alleles

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