Canonical Allele Identifier: CA364421047

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1424884
• ClinVar RCV Id: RCV001924111
• dbSNP Id: rs2150983802
• MyVariant Identifiers: chr6:g.51612966A>G (hg19) ; chr6:g.51748168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748168A>G , CM000668.2:g.51748168A>G	GRCh38
NC_000006.11:g.51612966A>G , CM000668.1:g.51612966A>G	GRCh37
NC_000006.10:g.51720925A>G	NCBI36
NG_008753.1:g.344458T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9448T>C MANE Select	ENSP00000360158.3:p.Phe3150Leu
ENST00000340994.4:c.9448T>C	ENSP00000341097.4:p.Phe3150Leu
ENST00000371117.7:c.9448T>C	ENSP00000360158.3:p.Phe3150Leu
NM_138694.3:c.9448T>C	NP_619639.3:p.Phe3150Leu
NM_170724.2:c.9448T>C	NP_733842.2:p.Phe3150Leu
XM_011514679.1:c.9448T>C	XP_011512981.1:p.Phe3150Leu
XM_011514680.1:c.9448T>C	XP_011512982.1:p.Phe3150Leu
XM_011514681.1:c.9319T>C	XP_011512983.1:p.Phe3107Leu
XM_011514682.1:c.9310T>C	XP_011512984.1:p.Phe3104Leu
XM_011514683.1:c.8806T>C	XP_011512985.1:p.Phe2936Leu
XM_011514684.1:c.8737T>C	XP_011512986.1:p.Phe2913Leu
XM_011514685.1:c.9448T>C	XP_011512987.1:p.Phe3150Leu
XM_011514686.1:c.9448T>C	XP_011512988.1:p.Phe3150Leu
XM_011514687.1:c.9448T>C	XP_011512989.1:p.Phe3150Leu
XM_011514688.1:c.9448T>C	XP_011512990.1:p.Phe3150Leu
XM_011514690.1:c.3523T>C	XP_011512992.1:p.Phe1175Leu
XM_011514691.1:c.3523T>C	XP_011512993.1:p.Phe1175Leu
XM_011514680.3:c.9448T>C	XP_011512982.1:p.Phe3150Leu
XM_011514682.3:c.9310T>C	XP_011512984.1:p.Phe3104Leu
XM_011514683.3:c.8806T>C	XP_011512985.1:p.Phe2936Leu
XM_011514684.3:c.8737T>C	XP_011512986.1:p.Phe2913Leu
XM_011514686.2:c.9448T>C	XP_011512988.1:p.Phe3150Leu
XM_011514688.2:c.9448T>C	XP_011512990.1:p.Phe3150Leu
XM_011514690.3:c.3523T>C	XP_011512992.1:p.Phe1175Leu
XM_011514691.3:c.3523T>C	XP_011512993.1:p.Phe1175Leu
XM_017010944.2:c.9448T>C	XP_016866433.1:p.Phe3150Leu
XM_017010945.2:c.9373T>C	XP_016866434.1:p.Phe3125Leu
XM_017010946.2:c.9253T>C	XP_016866435.1:p.Phe3085Leu
XM_017010947.2:c.9184T>C	XP_016866436.1:p.Phe3062Leu
XM_017010948.2:c.8737T>C	XP_016866437.1:p.Phe2913Leu
XM_017010949.2:c.7588T>C	XP_016866438.1:p.Phe2530Leu
XM_017010950.1:c.9448T>C	XP_016866439.1:p.Phe3150Leu
XR_001743469.1:n.9724T>C
NM_138694.4:c.9448T>C MANE Select	NP_619639.3:p.Phe3150Leu
NM_170724.3:c.9448T>C	NP_733842.2:p.Phe3150Leu