Canonical Allele Identifier: CA364423006

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 522472
• ClinVar RCV Id: RCV000625613
• dbSNP Id: rs1554263076
• MyVariant Identifiers: chr6:g.51695676T>A (hg19) ; chr6:g.51830878T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51830878T>A , CM000668.2:g.51830878T>A	GRCh38
NC_000006.11:g.51695676T>A , CM000668.1:g.51695676T>A	GRCh37
NC_000006.10:g.51803635T>A	NCBI36
NG_008753.1:g.261748A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8285A>T MANE Select	ENSP00000360158.3:p.Asp2762Val
ENST00000340994.4:c.8285A>T	ENSP00000341097.4:p.Asp2762Val
ENST00000371117.7:c.8285A>T	ENSP00000360158.3:p.Asp2762Val
NM_138694.3:c.8285A>T	NP_619639.3:p.Asp2762Val
NM_170724.2:c.8285A>T	NP_733842.2:p.Asp2762Val
XM_011514679.1:c.8285A>T	XP_011512981.1:p.Asp2762Val
XM_011514680.1:c.8285A>T	XP_011512982.1:p.Asp2762Val
XM_011514681.1:c.8173+5526A>T	XP_011512983.1:n.8173+5526A>T
XM_011514682.1:c.8285A>T	XP_011512984.1:p.Asp2762Val
XM_011514683.1:c.7643A>T	XP_011512985.1:p.Asp2548Val
XM_011514684.1:c.7574A>T	XP_011512986.1:p.Asp2525Val
XM_011514685.1:c.8285A>T	XP_011512987.1:p.Asp2762Val
XM_011514686.1:c.8285A>T	XP_011512988.1:p.Asp2762Val
XM_011514687.1:c.8285A>T	XP_011512989.1:p.Asp2762Val
XM_011514688.1:c.8285A>T	XP_011512990.1:p.Asp2762Val
XM_011514689.1:c.8285A>T	XP_011512991.1:p.Asp2762Val
XM_011514690.1:c.2360A>T	XP_011512992.1:p.Asp787Val
XM_011514691.1:c.2360A>T	XP_011512993.1:p.Asp787Val
XM_011514680.3:c.8285A>T	XP_011512982.1:p.Asp2762Val
XM_011514682.3:c.8285A>T	XP_011512984.1:p.Asp2762Val
XM_011514683.3:c.7643A>T	XP_011512985.1:p.Asp2548Val
XM_011514684.3:c.7574A>T	XP_011512986.1:p.Asp2525Val
XM_011514686.2:c.8285A>T	XP_011512988.1:p.Asp2762Val
XM_011514688.2:c.8285A>T	XP_011512990.1:p.Asp2762Val
XM_011514690.3:c.2360A>T	XP_011512992.1:p.Asp787Val
XM_011514691.3:c.2360A>T	XP_011512993.1:p.Asp787Val
XM_017010944.2:c.8285A>T	XP_016866433.1:p.Asp2762Val
XM_017010945.2:c.8210A>T	XP_016866434.1:p.Asp2737Val
XM_017010946.2:c.8107+16897A>T	XP_016866435.1:n.8107+16897A>T
XM_017010947.2:c.8021A>T	XP_016866436.1:p.Asp2674Val
XM_017010948.2:c.7574A>T	XP_016866437.1:p.Asp2525Val
XM_017010949.2:c.6425A>T	XP_016866438.1:p.Asp2142Val
XM_017010950.1:c.8285A>T	XP_016866439.1:p.Asp2762Val
XM_017010951.1:c.8285A>T	XP_016866440.1:p.Asp2762Val
XM_017010952.1:c.8285A>T	XP_016866441.1:p.Asp2762Val
XR_001743469.1:n.8561A>T
NM_138694.4:c.8285A>T MANE Select	NP_619639.3:p.Asp2762Val
NM_170724.3:c.8285A>T	NP_733842.2:p.Asp2762Val