Canonical Allele Identifier: CA138908801
Community Standard Title: NM_138694.4(PKHD1):c.8466G>A (p.Lys2822=)
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51775896C>T , CM000668.2:g.51775896C>T GRCh38
NC_000006.11:g.51640694C>T , CM000668.1:g.51640694C>T GRCh37
NC_000006.10:g.51748653C>T NCBI36
NG_008753.1:g.316730G>A

Transcript Alleles

HGVS Amino-acid Change
NM_138694.4:c.8466G>A MANE Select NP_619639.3:p.Lys2822=
ENST00000371117.8:c.8466G>A MANE Select ENSP00000360158.3:p.Lys2822=
NM_138694.3:c.8466G>A NP_619639.3:p.Lys2822=
NM_170724.2:c.8466G>A NP_733842.2:p.Lys2822=
NM_170724.3:c.8466G>A NP_733842.2:p.Lys2822=
ENST00000340994.4:c.8466G>A ENSP00000341097.4:p.Lys2822=
ENST00000371117.7:c.8466G>A ENSP00000360158.3:p.Lys2822=
XM_011514679.1:c.8466G>A XP_011512981.1:p.Lys2822=
XM_011514680.1:c.8466G>A XP_011512982.1:p.Lys2822=
XM_011514680.3:c.8466G>A XP_011512982.1:p.Lys2822=
XM_011514681.1:c.8337G>A XP_011512983.1:p.Lys2779=
XM_011514682.1:c.8328G>A XP_011512984.1:p.Lys2776=
XM_011514682.3:c.8328G>A XP_011512984.1:p.Lys2776=
XM_011514683.1:c.7824G>A XP_011512985.1:p.Lys2608=
XM_011514683.3:c.7824G>A XP_011512985.1:p.Lys2608=
XM_011514684.1:c.7755G>A XP_011512986.1:p.Lys2585=
XM_011514684.3:c.7755G>A XP_011512986.1:p.Lys2585=
XM_011514685.1:c.8466G>A XP_011512987.1:p.Lys2822=
XM_011514686.1:c.8466G>A XP_011512988.1:p.Lys2822=
XM_011514686.2:c.8466G>A XP_011512988.1:p.Lys2822=
XM_011514687.1:c.8466G>A XP_011512989.1:p.Lys2822=
XM_011514688.1:c.8466G>A XP_011512990.1:p.Lys2822=
XM_011514688.2:c.8466G>A XP_011512990.1:p.Lys2822=
XM_011514690.1:c.2541G>A XP_011512992.1:p.Lys847=
XM_011514690.3:c.2541G>A XP_011512992.1:p.Lys847=
XM_011514691.1:c.2541G>A XP_011512993.1:p.Lys847=
XM_011514691.3:c.2541G>A XP_011512993.1:p.Lys847=
XM_017010944.2:c.8466G>A XP_016866433.1:p.Lys2822=
XM_017010945.2:c.8391G>A XP_016866434.1:p.Lys2797=
XM_017010946.2:c.8271G>A XP_016866435.1:p.Lys2757=
XM_017010947.2:c.8202G>A XP_016866436.1:p.Lys2734=
XM_017010948.2:c.7755G>A XP_016866437.1:p.Lys2585=
XM_017010949.2:c.6606G>A XP_016866438.1:p.Lys2202=
XM_017010950.1:c.8466G>A XP_016866439.1:p.Lys2822=
XM_017010951.1:c.8466G>A XP_016866440.1:p.Lys2822=
XR_001743469.1:n.8742G>A