Canonical Allele Identifier: CA138907851

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 429814
• ClinVar RCV Id: RCV000492982 ; RCV001004192 ; RCV001775124 ; RCV003419833
• dbSNP Id: rs1020621286
• gnomAD v3: 6-51772791-T-G
• gnomAD v4: 6-51772791-T-G
• MyVariant Identifiers: chr6:g.51637589T>G (hg19) ; chr6:g.51772791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51772791T>G , CM000668.2:g.51772791T>G	GRCh38
NC_000006.11:g.51637589T>G , CM000668.1:g.51637589T>G	GRCh37
NC_000006.10:g.51745548T>G	NCBI36
NG_008753.1:g.319835A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8555-2A>C MANE Select	ENSP00000360158.3:n.8555-2A>C
ENST00000340994.4:c.8555-2A>C	ENSP00000341097.4:n.8555-2A>C
ENST00000371117.7:c.8555-2A>C	ENSP00000360158.3:n.8555-2A>C
NM_138694.3:c.8555-2A>C	NP_619639.3:n.8555-2A>C
NM_170724.2:c.8555-2A>C	NP_733842.2:n.8555-2A>C
XM_011514679.1:c.8555-2A>C	XP_011512981.1:n.8555-2A>C
XM_011514680.1:c.8555-2A>C	XP_011512982.1:n.8555-2A>C
XM_011514681.1:c.8426-2A>C	XP_011512983.1:n.8426-2A>C
XM_011514682.1:c.8417-2A>C	XP_011512984.1:n.8417-2A>C
XM_011514683.1:c.7913-2A>C	XP_011512985.1:n.7913-2A>C
XM_011514684.1:c.7844-2A>C	XP_011512986.1:n.7844-2A>C
XM_011514685.1:c.8555-2A>C	XP_011512987.1:n.8555-2A>C
XM_011514686.1:c.8555-2A>C	XP_011512988.1:n.8555-2A>C
XM_011514687.1:c.8555-2A>C	XP_011512989.1:n.8555-2A>C
XM_011514688.1:c.8555-2A>C	XP_011512990.1:n.8555-2A>C
XM_011514690.1:c.2630-2A>C	XP_011512992.1:n.2630-2A>C
XM_011514691.1:c.2630-2A>C	XP_011512993.1:n.2630-2A>C
XM_011514680.3:c.8555-2A>C	XP_011512982.1:n.8555-2A>C
XM_011514682.3:c.8417-2A>C	XP_011512984.1:n.8417-2A>C
XM_011514683.3:c.7913-2A>C	XP_011512985.1:n.7913-2A>C
XM_011514684.3:c.7844-2A>C	XP_011512986.1:n.7844-2A>C
XM_011514686.2:c.8555-2A>C	XP_011512988.1:n.8555-2A>C
XM_011514688.2:c.8555-2A>C	XP_011512990.1:n.8555-2A>C
XM_011514690.3:c.2630-2A>C	XP_011512992.1:n.2630-2A>C
XM_011514691.3:c.2630-2A>C	XP_011512993.1:n.2630-2A>C
XM_017010944.2:c.8555-2A>C	XP_016866433.1:n.8555-2A>C
XM_017010945.2:c.8480-2A>C	XP_016866434.1:n.8480-2A>C
XM_017010946.2:c.8360-2A>C	XP_016866435.1:n.8360-2A>C
XM_017010947.2:c.8291-2A>C	XP_016866436.1:n.8291-2A>C
XM_017010948.2:c.7844-2A>C	XP_016866437.1:n.7844-2A>C
XM_017010949.2:c.6695-2A>C	XP_016866438.1:n.6695-2A>C
XM_017010950.1:c.8555-2A>C	XP_016866439.1:n.8555-2A>C
XM_017010951.1:c.8555-2A>C	XP_016866440.1:n.8555-2A>C
XR_001743469.1:n.8831-2A>C
NM_138694.4:c.8555-2A>C MANE Select	NP_619639.3:n.8555-2A>C
NM_170724.3:c.8555-2A>C	NP_733842.2:n.8555-2A>C