Canonical Allele Identifier: CA3851112

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1657200
• ClinVar RCV Id: RCV002164313
• dbSNP Id: rs762103009
• ExAC: 6:51524627 C / T
• gnomAD v2: 6-51524627-C-T
• gnomAD v4: 6-51659829-C-T
• MyVariant Identifiers: chr6:g.51524627C>T (hg19) ; chr6:g.51659829C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659829C>T , CM000668.2:g.51659829C>T	GRCh38
NC_000006.11:g.51524627C>T , CM000668.1:g.51524627C>T	GRCh37
NC_000006.10:g.51632586C>T	NCBI36
NG_008753.1:g.432797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10297G>A MANE Select	ENSP00000360158.3:p.Val3433Met
ENST00000371117.7:c.10297G>A	ENSP00000360158.3:p.Val3433Met
NM_138694.3:c.10297G>A	NP_619639.3:p.Val3433Met
XM_011514679.1:c.10297G>A	XP_011512981.1:p.Val3433Met
XM_011514680.1:c.10297G>A	XP_011512982.1:p.Val3433Met
XM_011514681.1:c.10168G>A	XP_011512983.1:p.Val3390Met
XM_011514682.1:c.10159G>A	XP_011512984.1:p.Val3387Met
XM_011514683.1:c.9655G>A	XP_011512985.1:p.Val3219Met
XM_011514684.1:c.9586G>A	XP_011512986.1:p.Val3196Met
XM_011514687.1:c.10157-10609G>A	XP_011512989.1:n.10157-10609G>A
XM_011514690.1:c.4372G>A	XP_011512992.1:p.Val1458Met
XM_011514691.1:c.4372G>A	XP_011512993.1:p.Val1458Met
XR_926870.1:n.535+7456C>T
XR_926871.1:n.403+7456C>T
XR_926872.1:n.535+7456C>T
XM_011514680.3:c.10297G>A	XP_011512982.1:p.Val3433Met
XM_011514682.3:c.10159G>A	XP_011512984.1:p.Val3387Met
XM_011514683.3:c.9655G>A	XP_011512985.1:p.Val3219Met
XM_011514684.3:c.9586G>A	XP_011512986.1:p.Val3196Met
XM_011514690.3:c.4372G>A	XP_011512992.1:p.Val1458Met
XM_011514691.3:c.4372G>A	XP_011512993.1:p.Val1458Met
XM_017010944.2:c.10297G>A	XP_016866433.1:p.Val3433Met
XM_017010945.2:c.10222G>A	XP_016866434.1:p.Val3408Met
XM_017010946.2:c.10102G>A	XP_016866435.1:p.Val3368Met
XM_017010947.2:c.10033G>A	XP_016866436.1:p.Val3345Met
XM_017010948.2:c.9586G>A	XP_016866437.1:p.Val3196Met
XM_017010949.2:c.8437G>A	XP_016866438.1:p.Val2813Met
XR_001743469.1:n.10573G>A
XR_001744157.1:n.3145+7456C>T
XR_926870.2:n.3145+7456C>T
XR_926871.2:n.3013+7456C>T
XR_926872.2:n.3145+7456C>T
NM_138694.4:c.10297G>A MANE Select	NP_619639.3:p.Val3433Met