Canonical Allele Identifier: CA364436711

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524645A>T (hg19) ; chr6:g.51659847A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659847A>T , CM000668.2:g.51659847A>T	GRCh38
NC_000006.11:g.51524645A>T , CM000668.1:g.51524645A>T	GRCh37
NC_000006.10:g.51632604A>T	NCBI36
NG_008753.1:g.432779T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10279T>A MANE Select	ENSP00000360158.3:p.Leu3427Ile
ENST00000371117.7:c.10279T>A	ENSP00000360158.3:p.Leu3427Ile
NM_138694.3:c.10279T>A	NP_619639.3:p.Leu3427Ile
XM_011514679.1:c.10279T>A	XP_011512981.1:p.Leu3427Ile
XM_011514680.1:c.10279T>A	XP_011512982.1:p.Leu3427Ile
XM_011514681.1:c.10150T>A	XP_011512983.1:p.Leu3384Ile
XM_011514682.1:c.10141T>A	XP_011512984.1:p.Leu3381Ile
XM_011514683.1:c.9637T>A	XP_011512985.1:p.Leu3213Ile
XM_011514684.1:c.9568T>A	XP_011512986.1:p.Leu3190Ile
XM_011514687.1:c.10157-10627T>A	XP_011512989.1:n.10157-10627T>A
XM_011514690.1:c.4354T>A	XP_011512992.1:p.Leu1452Ile
XM_011514691.1:c.4354T>A	XP_011512993.1:p.Leu1452Ile
XR_926870.1:n.535+7474A>T
XR_926871.1:n.403+7474A>T
XR_926872.1:n.535+7474A>T
XM_011514680.3:c.10279T>A	XP_011512982.1:p.Leu3427Ile
XM_011514682.3:c.10141T>A	XP_011512984.1:p.Leu3381Ile
XM_011514683.3:c.9637T>A	XP_011512985.1:p.Leu3213Ile
XM_011514684.3:c.9568T>A	XP_011512986.1:p.Leu3190Ile
XM_011514690.3:c.4354T>A	XP_011512992.1:p.Leu1452Ile
XM_011514691.3:c.4354T>A	XP_011512993.1:p.Leu1452Ile
XM_017010944.2:c.10279T>A	XP_016866433.1:p.Leu3427Ile
XM_017010945.2:c.10204T>A	XP_016866434.1:p.Leu3402Ile
XM_017010946.2:c.10084T>A	XP_016866435.1:p.Leu3362Ile
XM_017010947.2:c.10015T>A	XP_016866436.1:p.Leu3339Ile
XM_017010948.2:c.9568T>A	XP_016866437.1:p.Leu3190Ile
XM_017010949.2:c.8419T>A	XP_016866438.1:p.Leu2807Ile
XR_001743469.1:n.10555T>A
XR_001744157.1:n.3145+7474A>T
XR_926870.2:n.3145+7474A>T
XR_926871.2:n.3013+7474A>T
XR_926872.2:n.3145+7474A>T
NM_138694.4:c.10279T>A MANE Select	NP_619639.3:p.Leu3427Ile