Canonical Allele Identifier: CA364418323

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491801C>T (hg19) ; chr6:g.51627003C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627003C>T , CM000668.2:g.51627003C>T	GRCh38
NC_000006.11:g.51491801C>T , CM000668.1:g.51491801C>T	GRCh37
NC_000006.10:g.51599760C>T	NCBI36
NG_008753.1:g.465623G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11779G>A MANE Select	ENSP00000360158.3:p.Gly3927Arg
ENST00000371117.7:c.11779G>A	ENSP00000360158.3:p.Gly3927Arg
NM_138694.3:c.11779G>A	NP_619639.3:p.Gly3927Arg
XM_011514679.1:c.11779G>A	XP_011512981.1:p.Gly3927Arg
XM_011514680.1:c.11779G>A	XP_011512982.1:p.Gly3927Arg
XM_011514681.1:c.11650G>A	XP_011512983.1:p.Gly3884Arg
XM_011514682.1:c.11641G>A	XP_011512984.1:p.Gly3881Arg
XM_011514683.1:c.11137G>A	XP_011512985.1:p.Gly3713Arg
XM_011514684.1:c.11068G>A	XP_011512986.1:p.Gly3690Arg
XM_011514690.1:c.5854G>A	XP_011512992.1:p.Gly1952Arg
XM_011514691.1:c.5854G>A	XP_011512993.1:p.Gly1952Arg
XM_011514680.3:c.11779G>A	XP_011512982.1:p.Gly3927Arg
XM_011514682.3:c.11641G>A	XP_011512984.1:p.Gly3881Arg
XM_011514683.3:c.11137G>A	XP_011512985.1:p.Gly3713Arg
XM_011514684.3:c.11068G>A	XP_011512986.1:p.Gly3690Arg
XM_011514690.3:c.5854G>A	XP_011512992.1:p.Gly1952Arg
XM_011514691.3:c.5854G>A	XP_011512993.1:p.Gly1952Arg
XM_017010944.2:c.11779G>A	XP_016866433.1:p.Gly3927Arg
XM_017010945.2:c.11704G>A	XP_016866434.1:p.Gly3902Arg
XM_017010946.2:c.11584G>A	XP_016866435.1:p.Gly3862Arg
XM_017010947.2:c.11515G>A	XP_016866436.1:p.Gly3839Arg
XM_017010948.2:c.11068G>A	XP_016866437.1:p.Gly3690Arg
XM_017010949.2:c.9919G>A	XP_016866438.1:p.Gly3307Arg
NM_138694.4:c.11779G>A MANE Select	NP_619639.3:p.Gly3927Arg