Canonical Allele Identifier: CA3851549

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51754910G>A , CM000668.2:g.51754910G>A	GRCh38
NC_000006.11:g.51619708G>A , CM000668.1:g.51619708G>A	GRCh37
NC_000006.10:g.51727667G>A	NCBI36
NG_008753.1:g.337716C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.8671C>T MANE Select	NP_619639.3:p.Arg2891Cys
ENST00000371117.8:c.8671C>T MANE Select	ENSP00000360158.3:p.Arg2891Cys
NM_138694.3:c.8671C>T	NP_619639.3:p.Arg2891Cys
NM_170724.2:c.8671C>T	NP_733842.2:p.Arg2891Cys
NM_170724.3:c.8671C>T	NP_733842.2:p.Arg2891Cys
ENST00000340994.4:c.8671C>T	ENSP00000341097.4:p.Arg2891Cys
ENST00000371117.7:c.8671C>T	ENSP00000360158.3:p.Arg2891Cys
XM_011514679.1:c.8671C>T	XP_011512981.1:p.Arg2891Cys
XM_011514680.1:c.8671C>T	XP_011512982.1:p.Arg2891Cys
XM_011514680.3:c.8671C>T	XP_011512982.1:p.Arg2891Cys
XM_011514681.1:c.8542C>T	XP_011512983.1:p.Arg2848Cys
XM_011514682.1:c.8533C>T	XP_011512984.1:p.Arg2845Cys
XM_011514682.3:c.8533C>T	XP_011512984.1:p.Arg2845Cys
XM_011514683.1:c.8029C>T	XP_011512985.1:p.Arg2677Cys
XM_011514683.3:c.8029C>T	XP_011512985.1:p.Arg2677Cys
XM_011514684.1:c.7960C>T	XP_011512986.1:p.Arg2654Cys
XM_011514684.3:c.7960C>T	XP_011512986.1:p.Arg2654Cys
XM_011514685.1:c.8671C>T	XP_011512987.1:p.Arg2891Cys
XM_011514686.1:c.8671C>T	XP_011512988.1:p.Arg2891Cys
XM_011514686.2:c.8671C>T	XP_011512988.1:p.Arg2891Cys
XM_011514687.1:c.8671C>T	XP_011512989.1:p.Arg2891Cys
XM_011514688.1:c.8671C>T	XP_011512990.1:p.Arg2891Cys
XM_011514688.2:c.8671C>T	XP_011512990.1:p.Arg2891Cys
XM_011514690.1:c.2746C>T	XP_011512992.1:p.Arg916Cys
XM_011514690.3:c.2746C>T	XP_011512992.1:p.Arg916Cys
XM_011514691.1:c.2746C>T	XP_011512993.1:p.Arg916Cys
XM_011514691.3:c.2746C>T	XP_011512993.1:p.Arg916Cys
XM_017010944.2:c.8671C>T	XP_016866433.1:p.Arg2891Cys
XM_017010945.2:c.8596C>T	XP_016866434.1:p.Arg2866Cys
XM_017010946.2:c.8476C>T	XP_016866435.1:p.Arg2826Cys
XM_017010947.2:c.8407C>T	XP_016866436.1:p.Arg2803Cys
XM_017010948.2:c.7960C>T	XP_016866437.1:p.Arg2654Cys
XM_017010949.2:c.6811C>T	XP_016866438.1:p.Arg2271Cys
XM_017010950.1:c.8671C>T	XP_016866439.1:p.Arg2891Cys
XM_017010951.1:c.8671C>T	XP_016866440.1:p.Arg2891Cys
XR_001743469.1:n.8947C>T