Canonical Allele Identifier: CA1628651456
Gene: PKHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52080041A= , CM000668.2:g.52080041A= GRCh38
NC_000006.11:g.51944839A= , CM000668.1:g.51944839A= GRCh37
NC_000006.10:g.52052798A= NCBI36
NG_008753.1:g.12585T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371117.8:c.282-33T= MANE Select ENSP00000360158.3:n.282-33T=
ENST00000340994.4:c.282-33T= ENSP00000341097.4:n.282-33T=
ENST00000371117.7:c.282-33T= ENSP00000360158.3:n.282-33T=
NM_138694.3:c.282-33T= NP_619639.3:n.282-33T=
NM_170724.2:c.282-33T= NP_733842.2:n.282-33T=
XM_011514679.1:c.282-33T= XP_011512981.1:n.282-33T=
XM_011514680.1:c.282-33T= XP_011512982.1:n.282-33T=
XM_011514681.1:c.282-33T= XP_011512983.1:n.282-33T=
XM_011514682.1:c.282-33T= XP_011512984.1:n.282-33T=
XM_011514683.1:c.282-33T= XP_011512985.1:n.282-33T=
XM_011514685.1:c.282-33T= XP_011512987.1:n.282-33T=
XM_011514686.1:c.282-33T= XP_011512988.1:n.282-33T=
XM_011514687.1:c.282-33T= XP_011512989.1:n.282-33T=
XM_011514688.1:c.282-33T= XP_011512990.1:n.282-33T=
XM_011514689.1:c.282-33T= XP_011512991.1:n.282-33T=
XM_011514680.3:c.282-33T= XP_011512982.1:n.282-33T=
XM_011514682.3:c.282-33T= XP_011512984.1:n.282-33T=
XM_011514683.3:c.282-33T= XP_011512985.1:n.282-33T=
XM_011514686.2:c.282-33T= XP_011512988.1:n.282-33T=
XM_011514688.2:c.282-33T= XP_011512990.1:n.282-33T=
XM_017010944.2:c.282-33T= XP_016866433.1:n.282-33T=
XM_017010945.2:c.282-33T= XP_016866434.1:n.282-33T=
XM_017010946.2:c.282-33T= XP_016866435.1:n.282-33T=
XM_017010947.2:c.282-33T= XP_016866436.1:n.282-33T=
XM_017010950.1:c.282-33T= XP_016866439.1:n.282-33T=
XM_017010951.1:c.282-33T= XP_016866440.1:n.282-33T=
XM_017010952.1:c.282-33T= XP_016866441.1:n.282-33T=
XR_001743469.1:n.558-33T=
NM_138694.4:c.282-33T= MANE Select NP_619639.3:n.282-33T=
NM_170724.3:c.282-33T= NP_733842.2:n.282-33T=