Canonical Allele Identifier: CA364430598

Gene: PKHD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11006C>G MANE Select	ENSP00000360158.3:p.Ser3669Trp
ENST00000371117.7:c.11006C>G	ENSP00000360158.3:p.Ser3669Trp
NM_138694.3:c.11006C>G	NP_619639.3:p.Ser3669Trp
XM_011514679.1:c.11006C>G	XP_011512981.1:p.Ser3669Trp
XM_011514680.1:c.11006C>G	XP_011512982.1:p.Ser3669Trp
XM_011514681.1:c.10877C>G	XP_011512983.1:p.Ser3626Trp
XM_011514682.1:c.10868C>G	XP_011512984.1:p.Ser3623Trp
XM_011514683.1:c.10364C>G	XP_011512985.1:p.Ser3455Trp
XM_011514684.1:c.10295C>G	XP_011512986.1:p.Ser3432Trp
XM_011514687.1:c.10157-9900C>G	XP_011512989.1:n.10157-9900C>G
XM_011514690.1:c.5081C>G	XP_011512992.1:p.Ser1694Trp
XM_011514691.1:c.5081C>G	XP_011512993.1:p.Ser1694Trp
XR_926870.1:n.535+6747G>C
XR_926871.1:n.403+6747G>C
XR_926872.1:n.535+6747G>C
XM_011514680.3:c.11006C>G	XP_011512982.1:p.Ser3669Trp
XM_011514682.3:c.10868C>G	XP_011512984.1:p.Ser3623Trp
XM_011514683.3:c.10364C>G	XP_011512985.1:p.Ser3455Trp
XM_011514684.3:c.10295C>G	XP_011512986.1:p.Ser3432Trp
XM_011514690.3:c.5081C>G	XP_011512992.1:p.Ser1694Trp
XM_011514691.3:c.5081C>G	XP_011512993.1:p.Ser1694Trp
XM_017010944.2:c.11006C>G	XP_016866433.1:p.Ser3669Trp
XM_017010945.2:c.10931C>G	XP_016866434.1:p.Ser3644Trp
XM_017010946.2:c.10811C>G	XP_016866435.1:p.Ser3604Trp
XM_017010947.2:c.10742C>G	XP_016866436.1:p.Ser3581Trp
XM_017010948.2:c.10295C>G	XP_016866437.1:p.Ser3432Trp
XM_017010949.2:c.9146C>G	XP_016866438.1:p.Ser3049Trp
XR_001743469.1:n.11282C>G
XR_001744157.1:n.3145+6747G>C
XR_926870.2:n.3145+6747G>C
XR_926871.2:n.3013+6747G>C
XR_926872.2:n.3145+6747G>C
NM_138694.4:c.11006C>G MANE Select	NP_619639.3:p.Ser3669Trp