Canonical Allele Identifier: CA450613726

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2012417
• ClinVar RCV Id: RCV002843099
• MyVariant Identifiers: chr6:g.51612832T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748034T>C , CM000668.2:g.51748034T>C	GRCh38
NC_000006.11:g.51612832T>C , CM000668.1:g.51612832T>C	GRCh37
NC_000006.10:g.51720791T>C	NCBI36
NG_008753.1:g.344592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9582A>G MANE Select	ENSP00000360158.3:p.Lys3194=
ENST00000340994.4:c.9582A>G	ENSP00000341097.4:p.Lys3194=
ENST00000371117.7:c.9582A>G	ENSP00000360158.3:p.Lys3194=
NM_138694.3:c.9582A>G	NP_619639.3:p.Lys3194=
NM_170724.2:c.9582A>G	NP_733842.2:p.Lys3194=
XM_011514679.1:c.9582A>G	XP_011512981.1:p.Lys3194=
XM_011514680.1:c.9582A>G	XP_011512982.1:p.Lys3194=
XM_011514681.1:c.9453A>G	XP_011512983.1:p.Lys3151=
XM_011514682.1:c.9444A>G	XP_011512984.1:p.Lys3148=
XM_011514683.1:c.8940A>G	XP_011512985.1:p.Lys2980=
XM_011514684.1:c.8871A>G	XP_011512986.1:p.Lys2957=
XM_011514685.1:c.9582A>G	XP_011512987.1:p.Lys3194=
XM_011514686.1:c.9582A>G	XP_011512988.1:p.Lys3194=
XM_011514687.1:c.9582A>G	XP_011512989.1:p.Lys3194=
XM_011514688.1:c.9582A>G	XP_011512990.1:p.Lys3194=
XM_011514690.1:c.3657A>G	XP_011512992.1:p.Lys1219=
XM_011514691.1:c.3657A>G	XP_011512993.1:p.Lys1219=
XM_011514680.3:c.9582A>G	XP_011512982.1:p.Lys3194=
XM_011514682.3:c.9444A>G	XP_011512984.1:p.Lys3148=
XM_011514683.3:c.8940A>G	XP_011512985.1:p.Lys2980=
XM_011514684.3:c.8871A>G	XP_011512986.1:p.Lys2957=
XM_011514686.2:c.9582A>G	XP_011512988.1:p.Lys3194=
XM_011514688.2:c.9582A>G	XP_011512990.1:p.Lys3194=
XM_011514690.3:c.3657A>G	XP_011512992.1:p.Lys1219=
XM_011514691.3:c.3657A>G	XP_011512993.1:p.Lys1219=
XM_017010944.2:c.9582A>G	XP_016866433.1:p.Lys3194=
XM_017010945.2:c.9507A>G	XP_016866434.1:p.Lys3169=
XM_017010946.2:c.9387A>G	XP_016866435.1:p.Lys3129=
XM_017010947.2:c.9318A>G	XP_016866436.1:p.Lys3106=
XM_017010948.2:c.8871A>G	XP_016866437.1:p.Lys2957=
XM_017010949.2:c.7722A>G	XP_016866438.1:p.Lys2574=
XM_017010950.1:c.9582A>G	XP_016866439.1:p.Lys3194=
XR_001743469.1:n.9858A>G
NM_138694.4:c.9582A>G MANE Select	NP_619639.3:p.Lys3194=
NM_170724.3:c.9582A>G	NP_733842.2:p.Lys3194=