Canonical Allele Identifier: CA364431207

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523998C>A (hg19) ; chr6:g.51659200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659200C>A , CM000668.2:g.51659200C>A	GRCh38
NC_000006.11:g.51523998C>A , CM000668.1:g.51523998C>A	GRCh37
NC_000006.10:g.51631957C>A	NCBI36
NG_008753.1:g.433426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10926G>T MANE Select	ENSP00000360158.3:p.Met3642Ile
ENST00000371117.7:c.10926G>T	ENSP00000360158.3:p.Met3642Ile
NM_138694.3:c.10926G>T	NP_619639.3:p.Met3642Ile
XM_011514679.1:c.10926G>T	XP_011512981.1:p.Met3642Ile
XM_011514680.1:c.10926G>T	XP_011512982.1:p.Met3642Ile
XM_011514681.1:c.10797G>T	XP_011512983.1:p.Met3599Ile
XM_011514682.1:c.10788G>T	XP_011512984.1:p.Met3596Ile
XM_011514683.1:c.10284G>T	XP_011512985.1:p.Met3428Ile
XM_011514684.1:c.10215G>T	XP_011512986.1:p.Met3405Ile
XM_011514687.1:c.10157-9980G>T	XP_011512989.1:n.10157-9980G>T
XM_011514690.1:c.5001G>T	XP_011512992.1:p.Met1667Ile
XM_011514691.1:c.5001G>T	XP_011512993.1:p.Met1667Ile
XR_926870.1:n.535+6827C>A
XR_926871.1:n.403+6827C>A
XR_926872.1:n.535+6827C>A
XM_011514680.3:c.10926G>T	XP_011512982.1:p.Met3642Ile
XM_011514682.3:c.10788G>T	XP_011512984.1:p.Met3596Ile
XM_011514683.3:c.10284G>T	XP_011512985.1:p.Met3428Ile
XM_011514684.3:c.10215G>T	XP_011512986.1:p.Met3405Ile
XM_011514690.3:c.5001G>T	XP_011512992.1:p.Met1667Ile
XM_011514691.3:c.5001G>T	XP_011512993.1:p.Met1667Ile
XM_017010944.2:c.10926G>T	XP_016866433.1:p.Met3642Ile
XM_017010945.2:c.10851G>T	XP_016866434.1:p.Met3617Ile
XM_017010946.2:c.10731G>T	XP_016866435.1:p.Met3577Ile
XM_017010947.2:c.10662G>T	XP_016866436.1:p.Met3554Ile
XM_017010948.2:c.10215G>T	XP_016866437.1:p.Met3405Ile
XM_017010949.2:c.9066G>T	XP_016866438.1:p.Met3022Ile
XR_001743469.1:n.11202G>T
XR_001744157.1:n.3145+6827C>A
XR_926870.2:n.3145+6827C>A
XR_926871.2:n.3013+6827C>A
XR_926872.2:n.3145+6827C>A
NM_138694.4:c.10926G>T MANE Select	NP_619639.3:p.Met3642Ile