Canonical Allele Identifier: CA3850778

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51632619A>G , CM000668.2:g.51632619A>G	GRCh38
NC_000006.11:g.51497417A>G , CM000668.1:g.51497417A>G	GRCh37
NC_000006.10:g.51605376A>G	NCBI36
NG_008753.1:g.460007T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11611T>C MANE Select	NP_619639.3:p.Trp3871Arg
ENST00000371117.8:c.11611T>C MANE Select	ENSP00000360158.3:p.Trp3871Arg
NM_138694.3:c.11611T>C	NP_619639.3:p.Trp3871Arg
ENST00000371117.7:c.11611T>C	ENSP00000360158.3:p.Trp3871Arg
XM_011514679.1:c.11611T>C	XP_011512981.1:p.Trp3871Arg
XM_011514680.1:c.11611T>C	XP_011512982.1:p.Trp3871Arg
XM_011514680.3:c.11611T>C	XP_011512982.1:p.Trp3871Arg
XM_011514681.1:c.11482T>C	XP_011512983.1:p.Trp3828Arg
XM_011514682.1:c.11473T>C	XP_011512984.1:p.Trp3825Arg
XM_011514682.3:c.11473T>C	XP_011512984.1:p.Trp3825Arg
XM_011514683.1:c.10969T>C	XP_011512985.1:p.Trp3657Arg
XM_011514683.3:c.10969T>C	XP_011512985.1:p.Trp3657Arg
XM_011514684.1:c.10900T>C	XP_011512986.1:p.Trp3634Arg
XM_011514684.3:c.10900T>C	XP_011512986.1:p.Trp3634Arg
XM_011514690.1:c.5686T>C	XP_011512992.1:p.Trp1896Arg
XM_011514690.3:c.5686T>C	XP_011512992.1:p.Trp1896Arg
XM_011514691.1:c.5686T>C	XP_011512993.1:p.Trp1896Arg
XM_011514691.3:c.5686T>C	XP_011512993.1:p.Trp1896Arg
XM_017010944.2:c.11611T>C	XP_016866433.1:p.Trp3871Arg
XM_017010945.2:c.11536T>C	XP_016866434.1:p.Trp3846Arg
XM_017010946.2:c.11416T>C	XP_016866435.1:p.Trp3806Arg
XM_017010947.2:c.11347T>C	XP_016866436.1:p.Trp3783Arg
XM_017010948.2:c.10900T>C	XP_016866437.1:p.Trp3634Arg
XM_017010949.2:c.9751T>C	XP_016866438.1:p.Trp3251Arg