Canonical Allele Identifier: CA364425650

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51649084C>G , CM000668.2:g.51649084C>G	GRCh38
NC_000006.11:g.51513882C>G , CM000668.1:g.51513882C>G	GRCh37
NC_000006.10:g.51621841C>G	NCBI36
NG_008753.1:g.443542G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11310+1G>C MANE Select	NP_619639.3:n.11310+1G>C
ENST00000371117.8:c.11310+1G>C MANE Select	ENSP00000360158.3:n.11310+1G>C
NM_138694.3:c.11310+1G>C	NP_619639.3:n.11310+1G>C
ENST00000371117.7:c.11310+1G>C	ENSP00000360158.3:n.11310+1G>C
XM_011514679.1:c.11310+1G>C	XP_011512981.1:n.11310+1G>C
XM_011514680.1:c.11310+1G>C	XP_011512982.1:n.11310+1G>C
XM_011514680.3:c.11310+1G>C	XP_011512982.1:n.11310+1G>C
XM_011514681.1:c.11181+1G>C	XP_011512983.1:n.11181+1G>C
XM_011514682.1:c.11172+1G>C	XP_011512984.1:n.11172+1G>C
XM_011514682.3:c.11172+1G>C	XP_011512984.1:n.11172+1G>C
XM_011514683.1:c.10668+1G>C	XP_011512985.1:n.10668+1G>C
XM_011514683.3:c.10668+1G>C	XP_011512985.1:n.10668+1G>C
XM_011514684.1:c.10599+1G>C	XP_011512986.1:n.10599+1G>C
XM_011514684.3:c.10599+1G>C	XP_011512986.1:n.10599+1G>C
XM_011514690.1:c.5385+1G>C	XP_011512992.1:n.5385+1G>C
XM_011514690.3:c.5385+1G>C	XP_011512992.1:n.5385+1G>C
XM_011514691.1:c.5385+1G>C	XP_011512993.1:n.5385+1G>C
XM_011514691.3:c.5385+1G>C	XP_011512993.1:n.5385+1G>C
XM_017010944.2:c.11310+1G>C	XP_016866433.1:n.11310+1G>C
XM_017010945.2:c.11235+1G>C	XP_016866434.1:n.11235+1G>C
XM_017010946.2:c.11115+1G>C	XP_016866435.1:n.11115+1G>C
XM_017010947.2:c.11046+1G>C	XP_016866436.1:n.11046+1G>C
XM_017010948.2:c.10599+1G>C	XP_016866437.1:n.10599+1G>C
XM_017010949.2:c.9450+1G>C	XP_016866438.1:n.9450+1G>C
XR_001743469.1:n.11587G>C