Canonical Allele Identifier: CA450411549

Gene: PKHD1

Linked Data

• COSMIC: COSM4932475
• MyVariant Identifiers: chr6:g.51491880A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627082A>T , CM000668.2:g.51627082A>T	GRCh38
NC_000006.11:g.51491880A>T , CM000668.1:g.51491880A>T	GRCh37
NC_000006.10:g.51599839A>T	NCBI36
NG_008753.1:g.465544T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11700T>A MANE Select	ENSP00000360158.3:p.Thr3900=
ENST00000371117.7:c.11700T>A	ENSP00000360158.3:p.Thr3900=
NM_138694.3:c.11700T>A	NP_619639.3:p.Thr3900=
XM_011514679.1:c.11700T>A	XP_011512981.1:p.Thr3900=
XM_011514680.1:c.11700T>A	XP_011512982.1:p.Thr3900=
XM_011514681.1:c.11571T>A	XP_011512983.1:p.Thr3857=
XM_011514682.1:c.11562T>A	XP_011512984.1:p.Thr3854=
XM_011514683.1:c.11058T>A	XP_011512985.1:p.Thr3686=
XM_011514684.1:c.10989T>A	XP_011512986.1:p.Thr3663=
XM_011514690.1:c.5775T>A	XP_011512992.1:p.Thr1925=
XM_011514691.1:c.5775T>A	XP_011512993.1:p.Thr1925=
XM_011514680.3:c.11700T>A	XP_011512982.1:p.Thr3900=
XM_011514682.3:c.11562T>A	XP_011512984.1:p.Thr3854=
XM_011514683.3:c.11058T>A	XP_011512985.1:p.Thr3686=
XM_011514684.3:c.10989T>A	XP_011512986.1:p.Thr3663=
XM_011514690.3:c.5775T>A	XP_011512992.1:p.Thr1925=
XM_011514691.3:c.5775T>A	XP_011512993.1:p.Thr1925=
XM_017010944.2:c.11700T>A	XP_016866433.1:p.Thr3900=
XM_017010945.2:c.11625T>A	XP_016866434.1:p.Thr3875=
XM_017010946.2:c.11505T>A	XP_016866435.1:p.Thr3835=
XM_017010947.2:c.11436T>A	XP_016866436.1:p.Thr3812=
XM_017010948.2:c.10989T>A	XP_016866437.1:p.Thr3663=
XM_017010949.2:c.9840T>A	XP_016866438.1:p.Thr3280=
NM_138694.4:c.11700T>A MANE Select	NP_619639.3:p.Thr3900=