Canonical Allele Identifier: CA364418930

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491891C>A (hg19) ; chr6:g.51627093C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627093C>A , CM000668.2:g.51627093C>A	GRCh38
NC_000006.11:g.51491891C>A , CM000668.1:g.51491891C>A	GRCh37
NC_000006.10:g.51599850C>A	NCBI36
NG_008753.1:g.465533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11689G>T MANE Select	ENSP00000360158.3:p.Glu3897Ter
ENST00000371117.7:c.11689G>T	ENSP00000360158.3:p.Glu3897Ter
NM_138694.3:c.11689G>T	NP_619639.3:p.Glu3897Ter
XM_011514679.1:c.11689G>T	XP_011512981.1:p.Glu3897Ter
XM_011514680.1:c.11689G>T	XP_011512982.1:p.Glu3897Ter
XM_011514681.1:c.11560G>T	XP_011512983.1:p.Glu3854Ter
XM_011514682.1:c.11551G>T	XP_011512984.1:p.Glu3851Ter
XM_011514683.1:c.11047G>T	XP_011512985.1:p.Glu3683Ter
XM_011514684.1:c.10978G>T	XP_011512986.1:p.Glu3660Ter
XM_011514690.1:c.5764G>T	XP_011512992.1:p.Glu1922Ter
XM_011514691.1:c.5764G>T	XP_011512993.1:p.Glu1922Ter
XM_011514680.3:c.11689G>T	XP_011512982.1:p.Glu3897Ter
XM_011514682.3:c.11551G>T	XP_011512984.1:p.Glu3851Ter
XM_011514683.3:c.11047G>T	XP_011512985.1:p.Glu3683Ter
XM_011514684.3:c.10978G>T	XP_011512986.1:p.Glu3660Ter
XM_011514690.3:c.5764G>T	XP_011512992.1:p.Glu1922Ter
XM_011514691.3:c.5764G>T	XP_011512993.1:p.Glu1922Ter
XM_017010944.2:c.11689G>T	XP_016866433.1:p.Glu3897Ter
XM_017010945.2:c.11614G>T	XP_016866434.1:p.Glu3872Ter
XM_017010946.2:c.11494G>T	XP_016866435.1:p.Glu3832Ter
XM_017010947.2:c.11425G>T	XP_016866436.1:p.Glu3809Ter
XM_017010948.2:c.10978G>T	XP_016866437.1:p.Glu3660Ter
XM_017010949.2:c.9829G>T	XP_016866438.1:p.Glu3277Ter
NM_138694.4:c.11689G>T MANE Select	NP_619639.3:p.Glu3897Ter