Canonical Allele Identifier: CA364420153

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51747837C>T , CM000668.2:g.51747837C>T	GRCh38
NC_000006.11:g.51612635C>T , CM000668.1:g.51612635C>T	GRCh37
NC_000006.10:g.51720594C>T	NCBI36
NG_008753.1:g.344789G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.9779G>A MANE Select	NP_619639.3:p.Trp3260Ter
ENST00000371117.8:c.9779G>A MANE Select	ENSP00000360158.3:p.Trp3260Ter
NM_138694.3:c.9779G>A	NP_619639.3:p.Trp3260Ter
NM_170724.2:c.9779G>A	NP_733842.2:p.Trp3260Ter
NM_170724.3:c.9779G>A	NP_733842.2:p.Trp3260Ter
ENST00000340994.4:c.9779G>A	ENSP00000341097.4:p.Trp3260Ter
ENST00000371117.7:c.9779G>A	ENSP00000360158.3:p.Trp3260Ter
XM_011514679.1:c.9779G>A	XP_011512981.1:p.Trp3260Ter
XM_011514680.1:c.9779G>A	XP_011512982.1:p.Trp3260Ter
XM_011514680.3:c.9779G>A	XP_011512982.1:p.Trp3260Ter
XM_011514681.1:c.9650G>A	XP_011512983.1:p.Trp3217Ter
XM_011514682.1:c.9641G>A	XP_011512984.1:p.Trp3214Ter
XM_011514682.3:c.9641G>A	XP_011512984.1:p.Trp3214Ter
XM_011514683.1:c.9137G>A	XP_011512985.1:p.Trp3046Ter
XM_011514683.3:c.9137G>A	XP_011512985.1:p.Trp3046Ter
XM_011514684.1:c.9068G>A	XP_011512986.1:p.Trp3023Ter
XM_011514684.3:c.9068G>A	XP_011512986.1:p.Trp3023Ter
XM_011514685.1:c.9779G>A	XP_011512987.1:p.Trp3260Ter
XM_011514686.1:c.9779G>A	XP_011512988.1:p.Trp3260Ter
XM_011514686.2:c.9779G>A	XP_011512988.1:p.Trp3260Ter
XM_011514687.1:c.9779G>A	XP_011512989.1:p.Trp3260Ter
XM_011514688.1:c.9779G>A	XP_011512990.1:p.Trp3260Ter
XM_011514688.2:c.9779G>A	XP_011512990.1:p.Trp3260Ter
XM_011514690.1:c.3854G>A	XP_011512992.1:p.Trp1285Ter
XM_011514690.3:c.3854G>A	XP_011512992.1:p.Trp1285Ter
XM_011514691.1:c.3854G>A	XP_011512993.1:p.Trp1285Ter
XM_011514691.3:c.3854G>A	XP_011512993.1:p.Trp1285Ter
XM_017010944.2:c.9779G>A	XP_016866433.1:p.Trp3260Ter
XM_017010945.2:c.9704G>A	XP_016866434.1:p.Trp3235Ter
XM_017010946.2:c.9584G>A	XP_016866435.1:p.Trp3195Ter
XM_017010947.2:c.9515G>A	XP_016866436.1:p.Trp3172Ter
XM_017010948.2:c.9068G>A	XP_016866437.1:p.Trp3023Ter
XM_017010949.2:c.7919G>A	XP_016866438.1:p.Trp2640Ter
XM_017010950.1:c.9779G>A	XP_016866439.1:p.Trp3260Ter
XR_001743469.1:n.10055G>A