Canonical Allele Identifier: CA364431585

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524069T>C (hg19) ; chr6:g.51659271T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659271T>C , CM000668.2:g.51659271T>C	GRCh38
NC_000006.11:g.51524069T>C , CM000668.1:g.51524069T>C	GRCh37
NC_000006.10:g.51632028T>C	NCBI36
NG_008753.1:g.433355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10855A>G MANE Select	ENSP00000360158.3:p.Lys3619Glu
ENST00000371117.7:c.10855A>G	ENSP00000360158.3:p.Lys3619Glu
NM_138694.3:c.10855A>G	NP_619639.3:p.Lys3619Glu
XM_011514679.1:c.10855A>G	XP_011512981.1:p.Lys3619Glu
XM_011514680.1:c.10855A>G	XP_011512982.1:p.Lys3619Glu
XM_011514681.1:c.10726A>G	XP_011512983.1:p.Lys3576Glu
XM_011514682.1:c.10717A>G	XP_011512984.1:p.Lys3573Glu
XM_011514683.1:c.10213A>G	XP_011512985.1:p.Lys3405Glu
XM_011514684.1:c.10144A>G	XP_011512986.1:p.Lys3382Glu
XM_011514687.1:c.10157-10051A>G	XP_011512989.1:n.10157-10051A>G
XM_011514690.1:c.4930A>G	XP_011512992.1:p.Lys1644Glu
XM_011514691.1:c.4930A>G	XP_011512993.1:p.Lys1644Glu
XR_926870.1:n.535+6898T>C
XR_926871.1:n.403+6898T>C
XR_926872.1:n.535+6898T>C
XM_011514680.3:c.10855A>G	XP_011512982.1:p.Lys3619Glu
XM_011514682.3:c.10717A>G	XP_011512984.1:p.Lys3573Glu
XM_011514683.3:c.10213A>G	XP_011512985.1:p.Lys3405Glu
XM_011514684.3:c.10144A>G	XP_011512986.1:p.Lys3382Glu
XM_011514690.3:c.4930A>G	XP_011512992.1:p.Lys1644Glu
XM_011514691.3:c.4930A>G	XP_011512993.1:p.Lys1644Glu
XM_017010944.2:c.10855A>G	XP_016866433.1:p.Lys3619Glu
XM_017010945.2:c.10780A>G	XP_016866434.1:p.Lys3594Glu
XM_017010946.2:c.10660A>G	XP_016866435.1:p.Lys3554Glu
XM_017010947.2:c.10591A>G	XP_016866436.1:p.Lys3531Glu
XM_017010948.2:c.10144A>G	XP_016866437.1:p.Lys3382Glu
XM_017010949.2:c.8995A>G	XP_016866438.1:p.Lys2999Glu
XR_001743469.1:n.11131A>G
XR_001744157.1:n.3145+6898T>C
XR_926870.2:n.3145+6898T>C
XR_926871.2:n.3013+6898T>C
XR_926872.2:n.3145+6898T>C
NM_138694.4:c.10855A>G MANE Select	NP_619639.3:p.Lys3619Glu