Canonical Allele Identifier: CA364430601

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523918G>T (hg19) ; chr6:g.51659120G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659120G>T , CM000668.2:g.51659120G>T	GRCh38
NC_000006.11:g.51523918G>T , CM000668.1:g.51523918G>T	GRCh37
NC_000006.10:g.51631877G>T	NCBI36
NG_008753.1:g.433506C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11006C>A MANE Select	ENSP00000360158.3:p.Ser3669Ter
ENST00000371117.7:c.11006C>A	ENSP00000360158.3:p.Ser3669Ter
NM_138694.3:c.11006C>A	NP_619639.3:p.Ser3669Ter
XM_011514679.1:c.11006C>A	XP_011512981.1:p.Ser3669Ter
XM_011514680.1:c.11006C>A	XP_011512982.1:p.Ser3669Ter
XM_011514681.1:c.10877C>A	XP_011512983.1:p.Ser3626Ter
XM_011514682.1:c.10868C>A	XP_011512984.1:p.Ser3623Ter
XM_011514683.1:c.10364C>A	XP_011512985.1:p.Ser3455Ter
XM_011514684.1:c.10295C>A	XP_011512986.1:p.Ser3432Ter
XM_011514687.1:c.10157-9900C>A	XP_011512989.1:n.10157-9900C>A
XM_011514690.1:c.5081C>A	XP_011512992.1:p.Ser1694Ter
XM_011514691.1:c.5081C>A	XP_011512993.1:p.Ser1694Ter
XR_926870.1:n.535+6747G>T
XR_926871.1:n.403+6747G>T
XR_926872.1:n.535+6747G>T
XM_011514680.3:c.11006C>A	XP_011512982.1:p.Ser3669Ter
XM_011514682.3:c.10868C>A	XP_011512984.1:p.Ser3623Ter
XM_011514683.3:c.10364C>A	XP_011512985.1:p.Ser3455Ter
XM_011514684.3:c.10295C>A	XP_011512986.1:p.Ser3432Ter
XM_011514690.3:c.5081C>A	XP_011512992.1:p.Ser1694Ter
XM_011514691.3:c.5081C>A	XP_011512993.1:p.Ser1694Ter
XM_017010944.2:c.11006C>A	XP_016866433.1:p.Ser3669Ter
XM_017010945.2:c.10931C>A	XP_016866434.1:p.Ser3644Ter
XM_017010946.2:c.10811C>A	XP_016866435.1:p.Ser3604Ter
XM_017010947.2:c.10742C>A	XP_016866436.1:p.Ser3581Ter
XM_017010948.2:c.10295C>A	XP_016866437.1:p.Ser3432Ter
XM_017010949.2:c.9146C>A	XP_016866438.1:p.Ser3049Ter
XR_001743469.1:n.11282C>A
XR_001744157.1:n.3145+6747G>T
XR_926870.2:n.3145+6747G>T
XR_926871.2:n.3013+6747G>T
XR_926872.2:n.3145+6747G>T
NM_138694.4:c.11006C>A MANE Select	NP_619639.3:p.Ser3669Ter