Canonical Allele Identifier: CA364430274

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1724962
• ClinVar RCV Id: RCV002308021
• gnomAD v4: 6-51659067-G-A
• MyVariant Identifiers: chr6:g.51523865G>A (hg19) ; chr6:g.51659067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659067G>A , CM000668.2:g.51659067G>A	GRCh38
NC_000006.11:g.51523865G>A , CM000668.1:g.51523865G>A	GRCh37
NC_000006.10:g.51631824G>A	NCBI36
NG_008753.1:g.433559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11059C>T MANE Select	ENSP00000360158.3:p.Gln3687Ter
ENST00000371117.7:c.11059C>T	ENSP00000360158.3:p.Gln3687Ter
NM_138694.3:c.11059C>T	NP_619639.3:p.Gln3687Ter
XM_011514679.1:c.11059C>T	XP_011512981.1:p.Gln3687Ter
XM_011514680.1:c.11059C>T	XP_011512982.1:p.Gln3687Ter
XM_011514681.1:c.10930C>T	XP_011512983.1:p.Gln3644Ter
XM_011514682.1:c.10921C>T	XP_011512984.1:p.Gln3641Ter
XM_011514683.1:c.10417C>T	XP_011512985.1:p.Gln3473Ter
XM_011514684.1:c.10348C>T	XP_011512986.1:p.Gln3450Ter
XM_011514687.1:c.10157-9847C>T	XP_011512989.1:n.10157-9847C>T
XM_011514690.1:c.5134C>T	XP_011512992.1:p.Gln1712Ter
XM_011514691.1:c.5134C>T	XP_011512993.1:p.Gln1712Ter
XR_926870.1:n.535+6694G>A
XR_926871.1:n.403+6694G>A
XR_926872.1:n.535+6694G>A
XM_011514680.3:c.11059C>T	XP_011512982.1:p.Gln3687Ter
XM_011514682.3:c.10921C>T	XP_011512984.1:p.Gln3641Ter
XM_011514683.3:c.10417C>T	XP_011512985.1:p.Gln3473Ter
XM_011514684.3:c.10348C>T	XP_011512986.1:p.Gln3450Ter
XM_011514690.3:c.5134C>T	XP_011512992.1:p.Gln1712Ter
XM_011514691.3:c.5134C>T	XP_011512993.1:p.Gln1712Ter
XM_017010944.2:c.11059C>T	XP_016866433.1:p.Gln3687Ter
XM_017010945.2:c.10984C>T	XP_016866434.1:p.Gln3662Ter
XM_017010946.2:c.10864C>T	XP_016866435.1:p.Gln3622Ter
XM_017010947.2:c.10795C>T	XP_016866436.1:p.Gln3599Ter
XM_017010948.2:c.10348C>T	XP_016866437.1:p.Gln3450Ter
XM_017010949.2:c.9199C>T	XP_016866438.1:p.Gln3067Ter
XR_001743469.1:n.11335C>T
XR_001744157.1:n.3145+6694G>A
XR_926870.2:n.3145+6694G>A
XR_926871.2:n.3013+6694G>A
XR_926872.2:n.3145+6694G>A
NM_138694.4:c.11059C>T MANE Select	NP_619639.3:p.Gln3687Ter