Canonical Allele Identifier: CA10627219

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 357452
• ClinVar RCV Id: RCV000315696 ; RCV003225063
• dbSNP Id: rs886061623
• MyVariant Identifiers: chr6:g.51924725C>T (hg19) ; chr6:g.52059927C>T (hg38)
• PubMed: PMID:16133180 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52059927C>T , CM000668.2:g.52059927C>T	GRCh38
NC_000006.11:g.51924725C>T , CM000668.1:g.51924725C>T	GRCh37
NC_000006.10:g.52032684C>T	NCBI36
NG_008753.1:g.32699G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.1233+1G>A MANE Select	ENSP00000360158.3:n.1233+1G>A
ENST00000340994.4:c.1233+1G>A	ENSP00000341097.4:n.1233+1G>A
ENST00000371117.7:c.1233+1G>A	ENSP00000360158.3:n.1233+1G>A
NM_138694.3:c.1233+1G>A	NP_619639.3:n.1233+1G>A
NM_170724.2:c.1233+1G>A	NP_733842.2:n.1233+1G>A
XM_011514679.1:c.1233+1G>A	XP_011512981.1:n.1233+1G>A
XM_011514680.1:c.1233+1G>A	XP_011512982.1:n.1233+1G>A
XM_011514681.1:c.1233+1G>A	XP_011512983.1:n.1233+1G>A
XM_011514682.1:c.1233+1G>A	XP_011512984.1:n.1233+1G>A
XM_011514683.1:c.1233+1G>A	XP_011512985.1:n.1233+1G>A
XM_011514684.1:c.522+1G>A	XP_011512986.1:n.522+1G>A
XM_011514685.1:c.1233+1G>A	XP_011512987.1:n.1233+1G>A
XM_011514686.1:c.1233+1G>A	XP_011512988.1:n.1233+1G>A
XM_011514687.1:c.1233+1G>A	XP_011512989.1:n.1233+1G>A
XM_011514688.1:c.1233+1G>A	XP_011512990.1:n.1233+1G>A
XM_011514689.1:c.1233+1G>A	XP_011512991.1:n.1233+1G>A
XM_011514680.3:c.1233+1G>A	XP_011512982.1:n.1233+1G>A
XM_011514682.3:c.1233+1G>A	XP_011512984.1:n.1233+1G>A
XM_011514683.3:c.1233+1G>A	XP_011512985.1:n.1233+1G>A
XM_011514684.3:c.522+1G>A	XP_011512986.1:n.522+1G>A
XM_011514686.2:c.1233+1G>A	XP_011512988.1:n.1233+1G>A
XM_011514688.2:c.1233+1G>A	XP_011512990.1:n.1233+1G>A
XM_017010944.2:c.1233+1G>A	XP_016866433.1:n.1233+1G>A
XM_017010945.2:c.1158+1G>A	XP_016866434.1:n.1158+1G>A
XM_017010946.2:c.1233+1G>A	XP_016866435.1:n.1233+1G>A
XM_017010947.2:c.1233+1G>A	XP_016866436.1:n.1233+1G>A
XM_017010948.2:c.522+1G>A	XP_016866437.1:n.522+1G>A
XM_017010950.1:c.1233+1G>A	XP_016866439.1:n.1233+1G>A
XM_017010951.1:c.1233+1G>A	XP_016866440.1:n.1233+1G>A
XM_017010952.1:c.1233+1G>A	XP_016866441.1:n.1233+1G>A
XR_001743469.1:n.1509+1G>A
NM_138694.4:c.1233+1G>A MANE Select	NP_619639.3:n.1233+1G>A
NM_170724.3:c.1233+1G>A	NP_733842.2:n.1233+1G>A