Canonical Allele Identifier: CA364418851

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491872T>A (hg19) ; chr6:g.51627074T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627074T>A , CM000668.2:g.51627074T>A	GRCh38
NC_000006.11:g.51491872T>A , CM000668.1:g.51491872T>A	GRCh37
NC_000006.10:g.51599831T>A	NCBI36
NG_008753.1:g.465552A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11708A>T MANE Select	ENSP00000360158.3:p.Gln3903Leu
ENST00000371117.7:c.11708A>T	ENSP00000360158.3:p.Gln3903Leu
NM_138694.3:c.11708A>T	NP_619639.3:p.Gln3903Leu
XM_011514679.1:c.11708A>T	XP_011512981.1:p.Gln3903Leu
XM_011514680.1:c.11708A>T	XP_011512982.1:p.Gln3903Leu
XM_011514681.1:c.11579A>T	XP_011512983.1:p.Gln3860Leu
XM_011514682.1:c.11570A>T	XP_011512984.1:p.Gln3857Leu
XM_011514683.1:c.11066A>T	XP_011512985.1:p.Gln3689Leu
XM_011514684.1:c.10997A>T	XP_011512986.1:p.Gln3666Leu
XM_011514690.1:c.5783A>T	XP_011512992.1:p.Gln1928Leu
XM_011514691.1:c.5783A>T	XP_011512993.1:p.Gln1928Leu
XM_011514680.3:c.11708A>T	XP_011512982.1:p.Gln3903Leu
XM_011514682.3:c.11570A>T	XP_011512984.1:p.Gln3857Leu
XM_011514683.3:c.11066A>T	XP_011512985.1:p.Gln3689Leu
XM_011514684.3:c.10997A>T	XP_011512986.1:p.Gln3666Leu
XM_011514690.3:c.5783A>T	XP_011512992.1:p.Gln1928Leu
XM_011514691.3:c.5783A>T	XP_011512993.1:p.Gln1928Leu
XM_017010944.2:c.11708A>T	XP_016866433.1:p.Gln3903Leu
XM_017010945.2:c.11633A>T	XP_016866434.1:p.Gln3878Leu
XM_017010946.2:c.11513A>T	XP_016866435.1:p.Gln3838Leu
XM_017010947.2:c.11444A>T	XP_016866436.1:p.Gln3815Leu
XM_017010948.2:c.10997A>T	XP_016866437.1:p.Gln3666Leu
XM_017010949.2:c.9848A>T	XP_016866438.1:p.Gln3283Leu
NM_138694.4:c.11708A>T MANE Select	NP_619639.3:p.Gln3903Leu