Canonical Allele Identifier: CA3850718

Gene: PKHD1

Linked Data

• dbSNP Id: rs776601687
• ExAC: 6:51491839 C / T
• gnomAD v2: 6-51491839-C-T
• gnomAD v3: 6-51627041-C-T
• gnomAD v4: 6-51627041-C-T
• MyVariant Identifiers: chr6:g.51491839C>T (hg19) ; chr6:g.51627041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627041C>T , CM000668.2:g.51627041C>T	GRCh38
NC_000006.11:g.51491839C>T , CM000668.1:g.51491839C>T	GRCh37
NC_000006.10:g.51599798C>T	NCBI36
NG_008753.1:g.465585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11741G>A MANE Select	ENSP00000360158.3:p.Arg3914Gln
ENST00000371117.7:c.11741G>A	ENSP00000360158.3:p.Arg3914Gln
NM_138694.3:c.11741G>A	NP_619639.3:p.Arg3914Gln
XM_011514679.1:c.11741G>A	XP_011512981.1:p.Arg3914Gln
XM_011514680.1:c.11741G>A	XP_011512982.1:p.Arg3914Gln
XM_011514681.1:c.11612G>A	XP_011512983.1:p.Arg3871Gln
XM_011514682.1:c.11603G>A	XP_011512984.1:p.Arg3868Gln
XM_011514683.1:c.11099G>A	XP_011512985.1:p.Arg3700Gln
XM_011514684.1:c.11030G>A	XP_011512986.1:p.Arg3677Gln
XM_011514690.1:c.5816G>A	XP_011512992.1:p.Arg1939Gln
XM_011514691.1:c.5816G>A	XP_011512993.1:p.Arg1939Gln
XM_011514680.3:c.11741G>A	XP_011512982.1:p.Arg3914Gln
XM_011514682.3:c.11603G>A	XP_011512984.1:p.Arg3868Gln
XM_011514683.3:c.11099G>A	XP_011512985.1:p.Arg3700Gln
XM_011514684.3:c.11030G>A	XP_011512986.1:p.Arg3677Gln
XM_011514690.3:c.5816G>A	XP_011512992.1:p.Arg1939Gln
XM_011514691.3:c.5816G>A	XP_011512993.1:p.Arg1939Gln
XM_017010944.2:c.11741G>A	XP_016866433.1:p.Arg3914Gln
XM_017010945.2:c.11666G>A	XP_016866434.1:p.Arg3889Gln
XM_017010946.2:c.11546G>A	XP_016866435.1:p.Arg3849Gln
XM_017010947.2:c.11477G>A	XP_016866436.1:p.Arg3826Gln
XM_017010948.2:c.11030G>A	XP_016866437.1:p.Arg3677Gln
XM_017010949.2:c.9881G>A	XP_016866438.1:p.Arg3294Gln
NM_138694.4:c.11741G>A MANE Select	NP_619639.3:p.Arg3914Gln