Canonical Allele Identifier: CA658796776

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 499614
• ClinVar RCV Id: RCV000596343 ; RCV001455456 ; RCV003900326
• dbSNP Id: rs1365502451
• gnomAD v4: 6-52069447-G-C
• MyVariant Identifiers: chr6:g.51934245G>C (hg19) ; chr6:g.52069447G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52069447G>C , CM000668.2:g.52069447G>C	GRCh38
NC_000006.11:g.51934245G>C , CM000668.1:g.51934245G>C	GRCh37
NC_000006.10:g.52042204G>C	NCBI36
NG_008753.1:g.23179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.778+10C>G MANE Select	ENSP00000360158.3:n.778+10C>G
ENST00000340994.4:c.778+10C>G	ENSP00000341097.4:n.778+10C>G
ENST00000371117.7:c.778+10C>G	ENSP00000360158.3:n.778+10C>G
NM_138694.3:c.778+10C>G	NP_619639.3:n.778+10C>G
NM_170724.2:c.778+10C>G	NP_733842.2:n.778+10C>G
XM_011514679.1:c.778+10C>G	XP_011512981.1:n.778+10C>G
XM_011514680.1:c.778+10C>G	XP_011512982.1:n.778+10C>G
XM_011514681.1:c.778+10C>G	XP_011512983.1:n.778+10C>G
XM_011514682.1:c.778+10C>G	XP_011512984.1:n.778+10C>G
XM_011514683.1:c.778+10C>G	XP_011512985.1:n.778+10C>G
XM_011514684.1:c.67+10C>G	XP_011512986.1:n.67+10C>G
XM_011514685.1:c.778+10C>G	XP_011512987.1:n.778+10C>G
XM_011514686.1:c.778+10C>G	XP_011512988.1:n.778+10C>G
XM_011514687.1:c.778+10C>G	XP_011512989.1:n.778+10C>G
XM_011514688.1:c.778+10C>G	XP_011512990.1:n.778+10C>G
XM_011514689.1:c.778+10C>G	XP_011512991.1:n.778+10C>G
XR_926869.1:n.389+251G>C
XM_011514680.3:c.778+10C>G	XP_011512982.1:n.778+10C>G
XM_011514682.3:c.778+10C>G	XP_011512984.1:n.778+10C>G
XM_011514683.3:c.778+10C>G	XP_011512985.1:n.778+10C>G
XM_011514684.3:c.67+10C>G	XP_011512986.1:n.67+10C>G
XM_011514686.2:c.778+10C>G	XP_011512988.1:n.778+10C>G
XM_011514688.2:c.778+10C>G	XP_011512990.1:n.778+10C>G
XM_017010944.2:c.778+10C>G	XP_016866433.1:n.778+10C>G
XM_017010945.2:c.703+10C>G	XP_016866434.1:n.703+10C>G
XM_017010946.2:c.778+10C>G	XP_016866435.1:n.778+10C>G
XM_017010947.2:c.778+10C>G	XP_016866436.1:n.778+10C>G
XM_017010948.2:c.67+10C>G	XP_016866437.1:n.67+10C>G
XM_017010950.1:c.778+10C>G	XP_016866439.1:n.778+10C>G
XM_017010951.1:c.778+10C>G	XP_016866440.1:n.778+10C>G
XM_017010952.1:c.778+10C>G	XP_016866441.1:n.778+10C>G
XR_001743469.1:n.1054+10C>G
NM_138694.4:c.778+10C>G MANE Select	NP_619639.3:n.778+10C>G
NM_170724.3:c.778+10C>G	NP_733842.2:n.778+10C>G