Canonical Allele Identifier: CA364419835

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51746891T>G , CM000668.2:g.51746891T>G	GRCh38
NC_000006.11:g.51611689T>G , CM000668.1:g.51611689T>G	GRCh37
NC_000006.10:g.51719648T>G	NCBI36
NG_008753.1:g.345735A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.9830-2A>C MANE Select	NP_619639.3:n.9830-2A>C
ENST00000371117.8:c.9830-2A>C MANE Select	ENSP00000360158.3:n.9830-2A>C
NM_138694.3:c.9830-2A>C	NP_619639.3:n.9830-2A>C
NM_170724.2:c.9830-2A>C	NP_733842.2:n.9830-2A>C
NM_170724.3:c.9830-2A>C	NP_733842.2:n.9830-2A>C
ENST00000340994.4:c.9830-2A>C	ENSP00000341097.4:n.9830-2A>C
ENST00000371117.7:c.9830-2A>C	ENSP00000360158.3:n.9830-2A>C
XM_011514679.1:c.9830-2A>C	XP_011512981.1:n.9830-2A>C
XM_011514680.1:c.9830-2A>C	XP_011512982.1:n.9830-2A>C
XM_011514680.3:c.9830-2A>C	XP_011512982.1:n.9830-2A>C
XM_011514681.1:c.9701-2A>C	XP_011512983.1:n.9701-2A>C
XM_011514682.1:c.9692-2A>C	XP_011512984.1:n.9692-2A>C
XM_011514682.3:c.9692-2A>C	XP_011512984.1:n.9692-2A>C
XM_011514683.1:c.9188-2A>C	XP_011512985.1:n.9188-2A>C
XM_011514683.3:c.9188-2A>C	XP_011512985.1:n.9188-2A>C
XM_011514684.1:c.9119-2A>C	XP_011512986.1:n.9119-2A>C
XM_011514684.3:c.9119-2A>C	XP_011512986.1:n.9119-2A>C
XM_011514685.1:c.9830-2A>C	XP_011512987.1:n.9830-2A>C
XM_011514686.1:c.9830-2A>C	XP_011512988.1:n.9830-2A>C
XM_011514686.2:c.9830-2A>C	XP_011512988.1:n.9830-2A>C
XM_011514687.1:c.9830-2A>C	XP_011512989.1:n.9830-2A>C
XM_011514688.1:c.9830-18A>C	XP_011512990.1:n.9830-18A>C
XM_011514688.2:c.9830-18A>C	XP_011512990.1:n.9830-18A>C
XM_011514690.1:c.3905-2A>C	XP_011512992.1:n.3905-2A>C
XM_011514690.3:c.3905-2A>C	XP_011512992.1:n.3905-2A>C
XM_011514691.1:c.3905-2A>C	XP_011512993.1:n.3905-2A>C
XM_011514691.3:c.3905-2A>C	XP_011512993.1:n.3905-2A>C
XM_017010944.2:c.9830-2A>C	XP_016866433.1:n.9830-2A>C
XM_017010945.2:c.9755-2A>C	XP_016866434.1:n.9755-2A>C
XM_017010946.2:c.9635-2A>C	XP_016866435.1:n.9635-2A>C
XM_017010947.2:c.9566-2A>C	XP_016866436.1:n.9566-2A>C
XM_017010948.2:c.9119-2A>C	XP_016866437.1:n.9119-2A>C
XM_017010949.2:c.7970-2A>C	XP_016866438.1:n.7970-2A>C
XM_017010950.1:c.9830-2A>C	XP_016866439.1:n.9830-2A>C
XR_001743469.1:n.10106-2A>C