Canonical Allele Identifier: CA16041022

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 370289
• ClinVar RCV Id: RCV002504202
• dbSNP Id: rs199839578
• gnomAD v2: 6-51512913-G-A
• gnomAD v3: 6-51648115-G-A
• gnomAD v4: 6-51648115-G-A
• MyVariant Identifiers: chr6:g.51512913G>A (hg19) ; chr6:g.51648115G>A (hg38)
• PubMed: PMID:15108281 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51648115G>A , CM000668.2:g.51648115G>A	GRCh38
NC_000006.11:g.51512913G>A , CM000668.1:g.51512913G>A	GRCh37
NC_000006.10:g.51620872G>A	NCBI36
NG_008753.1:g.444511C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11314C>T MANE Select	ENSP00000360158.3:p.Arg3772Ter
ENST00000371117.7:c.11314C>T	ENSP00000360158.3:p.Arg3772Ter
NM_138694.3:c.11314C>T	NP_619639.3:p.Arg3772Ter
XM_011514679.1:c.11314C>T	XP_011512981.1:p.Arg3772Ter
XM_011514680.1:c.11314C>T	XP_011512982.1:p.Arg3772Ter
XM_011514681.1:c.11185C>T	XP_011512983.1:p.Arg3729Ter
XM_011514682.1:c.11176C>T	XP_011512984.1:p.Arg3726Ter
XM_011514683.1:c.10672C>T	XP_011512985.1:p.Arg3558Ter
XM_011514684.1:c.10603C>T	XP_011512986.1:p.Arg3535Ter
XM_011514690.1:c.5389C>T	XP_011512992.1:p.Arg1797Ter
XM_011514691.1:c.5389C>T	XP_011512993.1:p.Arg1797Ter
XM_011514680.3:c.11314C>T	XP_011512982.1:p.Arg3772Ter
XM_011514682.3:c.11176C>T	XP_011512984.1:p.Arg3726Ter
XM_011514683.3:c.10672C>T	XP_011512985.1:p.Arg3558Ter
XM_011514684.3:c.10603C>T	XP_011512986.1:p.Arg3535Ter
XM_011514690.3:c.5389C>T	XP_011512992.1:p.Arg1797Ter
XM_011514691.3:c.5389C>T	XP_011512993.1:p.Arg1797Ter
XM_017010944.2:c.11314C>T	XP_016866433.1:p.Arg3772Ter
XM_017010945.2:c.11239C>T	XP_016866434.1:p.Arg3747Ter
XM_017010946.2:c.11119C>T	XP_016866435.1:p.Arg3707Ter
XM_017010947.2:c.11050C>T	XP_016866436.1:p.Arg3684Ter
XM_017010948.2:c.10603C>T	XP_016866437.1:p.Arg3535Ter
XM_017010949.2:c.9454C>T	XP_016866438.1:p.Arg3152Ter
XR_001743469.1:n.11604C>T
NM_138694.4:c.11314C>T MANE Select	NP_619639.3:p.Arg3772Ter