Canonical Allele Identifier: CA364424166

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51613392T>A (hg19) ; chr6:g.51748594T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748594T>A , CM000668.2:g.51748594T>A	GRCh38
NC_000006.11:g.51613392T>A , CM000668.1:g.51613392T>A	GRCh37
NC_000006.10:g.51721351T>A	NCBI36
NG_008753.1:g.344032A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9022A>T MANE Select	ENSP00000360158.3:p.Asn3008Tyr
ENST00000340994.4:c.9022A>T	ENSP00000341097.4:p.Asn3008Tyr
ENST00000371117.7:c.9022A>T	ENSP00000360158.3:p.Asn3008Tyr
NM_138694.3:c.9022A>T	NP_619639.3:p.Asn3008Tyr
NM_170724.2:c.9022A>T	NP_733842.2:p.Asn3008Tyr
XM_011514679.1:c.9022A>T	XP_011512981.1:p.Asn3008Tyr
XM_011514680.1:c.9022A>T	XP_011512982.1:p.Asn3008Tyr
XM_011514681.1:c.8893A>T	XP_011512983.1:p.Asn2965Tyr
XM_011514682.1:c.8884A>T	XP_011512984.1:p.Asn2962Tyr
XM_011514683.1:c.8380A>T	XP_011512985.1:p.Asn2794Tyr
XM_011514684.1:c.8311A>T	XP_011512986.1:p.Asn2771Tyr
XM_011514685.1:c.9022A>T	XP_011512987.1:p.Asn3008Tyr
XM_011514686.1:c.9022A>T	XP_011512988.1:p.Asn3008Tyr
XM_011514687.1:c.9022A>T	XP_011512989.1:p.Asn3008Tyr
XM_011514688.1:c.9022A>T	XP_011512990.1:p.Asn3008Tyr
XM_011514690.1:c.3097A>T	XP_011512992.1:p.Asn1033Tyr
XM_011514691.1:c.3097A>T	XP_011512993.1:p.Asn1033Tyr
XM_011514680.3:c.9022A>T	XP_011512982.1:p.Asn3008Tyr
XM_011514682.3:c.8884A>T	XP_011512984.1:p.Asn2962Tyr
XM_011514683.3:c.8380A>T	XP_011512985.1:p.Asn2794Tyr
XM_011514684.3:c.8311A>T	XP_011512986.1:p.Asn2771Tyr
XM_011514686.2:c.9022A>T	XP_011512988.1:p.Asn3008Tyr
XM_011514688.2:c.9022A>T	XP_011512990.1:p.Asn3008Tyr
XM_011514690.3:c.3097A>T	XP_011512992.1:p.Asn1033Tyr
XM_011514691.3:c.3097A>T	XP_011512993.1:p.Asn1033Tyr
XM_017010944.2:c.9022A>T	XP_016866433.1:p.Asn3008Tyr
XM_017010945.2:c.8947A>T	XP_016866434.1:p.Asn2983Tyr
XM_017010946.2:c.8827A>T	XP_016866435.1:p.Asn2943Tyr
XM_017010947.2:c.8758A>T	XP_016866436.1:p.Asn2920Tyr
XM_017010948.2:c.8311A>T	XP_016866437.1:p.Asn2771Tyr
XM_017010949.2:c.7162A>T	XP_016866438.1:p.Asn2388Tyr
XM_017010950.1:c.9022A>T	XP_016866439.1:p.Asn3008Tyr
XR_001743469.1:n.9298A>T
NM_138694.4:c.9022A>T MANE Select	NP_619639.3:p.Asn3008Tyr
NM_170724.3:c.9022A>T	NP_733842.2:p.Asn3008Tyr