Canonical Allele Identifier: CA3850767

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51632564C>T , CM000668.2:g.51632564C>T	GRCh38
NC_000006.11:g.51497362C>T , CM000668.1:g.51497362C>T	GRCh37
NC_000006.10:g.51605321C>T	NCBI36
NG_008753.1:g.460062G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11665+1G>A MANE Select	NP_619639.3:n.11665+1G>A
ENST00000371117.8:c.11665+1G>A MANE Select	ENSP00000360158.3:n.11665+1G>A
NM_138694.3:c.11665+1G>A	NP_619639.3:n.11665+1G>A
ENST00000371117.7:c.11665+1G>A	ENSP00000360158.3:n.11665+1G>A
XM_011514679.1:c.11665+1G>A	XP_011512981.1:n.11665+1G>A
XM_011514680.1:c.11665+1G>A	XP_011512982.1:n.11665+1G>A
XM_011514680.3:c.11665+1G>A	XP_011512982.1:n.11665+1G>A
XM_011514681.1:c.11536+1G>A	XP_011512983.1:n.11536+1G>A
XM_011514682.1:c.11527+1G>A	XP_011512984.1:n.11527+1G>A
XM_011514682.3:c.11527+1G>A	XP_011512984.1:n.11527+1G>A
XM_011514683.1:c.11023+1G>A	XP_011512985.1:n.11023+1G>A
XM_011514683.3:c.11023+1G>A	XP_011512985.1:n.11023+1G>A
XM_011514684.1:c.10954+1G>A	XP_011512986.1:n.10954+1G>A
XM_011514684.3:c.10954+1G>A	XP_011512986.1:n.10954+1G>A
XM_011514690.1:c.5740+1G>A	XP_011512992.1:n.5740+1G>A
XM_011514690.3:c.5740+1G>A	XP_011512992.1:n.5740+1G>A
XM_011514691.1:c.5740+1G>A	XP_011512993.1:n.5740+1G>A
XM_011514691.3:c.5740+1G>A	XP_011512993.1:n.5740+1G>A
XM_017010944.2:c.11665+1G>A	XP_016866433.1:n.11665+1G>A
XM_017010945.2:c.11590+1G>A	XP_016866434.1:n.11590+1G>A
XM_017010946.2:c.11470+1G>A	XP_016866435.1:n.11470+1G>A
XM_017010947.2:c.11401+1G>A	XP_016866436.1:n.11401+1G>A
XM_017010948.2:c.10954+1G>A	XP_016866437.1:n.10954+1G>A
XM_017010949.2:c.9805+1G>A	XP_016866438.1:n.9805+1G>A