Canonical Allele Identifier: CA364418901

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491884T>A (hg19) ; chr6:g.51627086T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627086T>A , CM000668.2:g.51627086T>A	GRCh38
NC_000006.11:g.51491884T>A , CM000668.1:g.51491884T>A	GRCh37
NC_000006.10:g.51599843T>A	NCBI36
NG_008753.1:g.465540A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11696A>T MANE Select	ENSP00000360158.3:p.Gln3899Leu
ENST00000371117.7:c.11696A>T	ENSP00000360158.3:p.Gln3899Leu
NM_138694.3:c.11696A>T	NP_619639.3:p.Gln3899Leu
XM_011514679.1:c.11696A>T	XP_011512981.1:p.Gln3899Leu
XM_011514680.1:c.11696A>T	XP_011512982.1:p.Gln3899Leu
XM_011514681.1:c.11567A>T	XP_011512983.1:p.Gln3856Leu
XM_011514682.1:c.11558A>T	XP_011512984.1:p.Gln3853Leu
XM_011514683.1:c.11054A>T	XP_011512985.1:p.Gln3685Leu
XM_011514684.1:c.10985A>T	XP_011512986.1:p.Gln3662Leu
XM_011514690.1:c.5771A>T	XP_011512992.1:p.Gln1924Leu
XM_011514691.1:c.5771A>T	XP_011512993.1:p.Gln1924Leu
XM_011514680.3:c.11696A>T	XP_011512982.1:p.Gln3899Leu
XM_011514682.3:c.11558A>T	XP_011512984.1:p.Gln3853Leu
XM_011514683.3:c.11054A>T	XP_011512985.1:p.Gln3685Leu
XM_011514684.3:c.10985A>T	XP_011512986.1:p.Gln3662Leu
XM_011514690.3:c.5771A>T	XP_011512992.1:p.Gln1924Leu
XM_011514691.3:c.5771A>T	XP_011512993.1:p.Gln1924Leu
XM_017010944.2:c.11696A>T	XP_016866433.1:p.Gln3899Leu
XM_017010945.2:c.11621A>T	XP_016866434.1:p.Gln3874Leu
XM_017010946.2:c.11501A>T	XP_016866435.1:p.Gln3834Leu
XM_017010947.2:c.11432A>T	XP_016866436.1:p.Gln3811Leu
XM_017010948.2:c.10985A>T	XP_016866437.1:p.Gln3662Leu
XM_017010949.2:c.9836A>T	XP_016866438.1:p.Gln3279Leu
NM_138694.4:c.11696A>T MANE Select	NP_619639.3:p.Gln3899Leu