Canonical Allele Identifier: CA450613733

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2858050
• ClinVar RCV Id: RCV003613473
• MyVariant Identifiers: chr6:g.51612985T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748187T>C , CM000668.2:g.51748187T>C	GRCh38
NC_000006.11:g.51612985T>C , CM000668.1:g.51612985T>C	GRCh37
NC_000006.10:g.51720944T>C	NCBI36
NG_008753.1:g.344439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9429A>G MANE Select	ENSP00000360158.3:p.Arg3143=
ENST00000340994.4:c.9429A>G	ENSP00000341097.4:p.Arg3143=
ENST00000371117.7:c.9429A>G	ENSP00000360158.3:p.Arg3143=
NM_138694.3:c.9429A>G	NP_619639.3:p.Arg3143=
NM_170724.2:c.9429A>G	NP_733842.2:p.Arg3143=
XM_011514679.1:c.9429A>G	XP_011512981.1:p.Arg3143=
XM_011514680.1:c.9429A>G	XP_011512982.1:p.Arg3143=
XM_011514681.1:c.9300A>G	XP_011512983.1:p.Arg3100=
XM_011514682.1:c.9291A>G	XP_011512984.1:p.Arg3097=
XM_011514683.1:c.8787A>G	XP_011512985.1:p.Arg2929=
XM_011514684.1:c.8718A>G	XP_011512986.1:p.Arg2906=
XM_011514685.1:c.9429A>G	XP_011512987.1:p.Arg3143=
XM_011514686.1:c.9429A>G	XP_011512988.1:p.Arg3143=
XM_011514687.1:c.9429A>G	XP_011512989.1:p.Arg3143=
XM_011514688.1:c.9429A>G	XP_011512990.1:p.Arg3143=
XM_011514690.1:c.3504A>G	XP_011512992.1:p.Arg1168=
XM_011514691.1:c.3504A>G	XP_011512993.1:p.Arg1168=
XM_011514680.3:c.9429A>G	XP_011512982.1:p.Arg3143=
XM_011514682.3:c.9291A>G	XP_011512984.1:p.Arg3097=
XM_011514683.3:c.8787A>G	XP_011512985.1:p.Arg2929=
XM_011514684.3:c.8718A>G	XP_011512986.1:p.Arg2906=
XM_011514686.2:c.9429A>G	XP_011512988.1:p.Arg3143=
XM_011514688.2:c.9429A>G	XP_011512990.1:p.Arg3143=
XM_011514690.3:c.3504A>G	XP_011512992.1:p.Arg1168=
XM_011514691.3:c.3504A>G	XP_011512993.1:p.Arg1168=
XM_017010944.2:c.9429A>G	XP_016866433.1:p.Arg3143=
XM_017010945.2:c.9354A>G	XP_016866434.1:p.Arg3118=
XM_017010946.2:c.9234A>G	XP_016866435.1:p.Arg3078=
XM_017010947.2:c.9165A>G	XP_016866436.1:p.Arg3055=
XM_017010948.2:c.8718A>G	XP_016866437.1:p.Arg2906=
XM_017010949.2:c.7569A>G	XP_016866438.1:p.Arg2523=
XM_017010950.1:c.9429A>G	XP_016866439.1:p.Arg3143=
XR_001743469.1:n.9705A>G
NM_138694.4:c.9429A>G MANE Select	NP_619639.3:p.Arg3143=
NM_170724.3:c.9429A>G	NP_733842.2:p.Arg3143=