Canonical Allele Identifier: CA364430112

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523835G>T (hg19) ; chr6:g.51659037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659037G>T , CM000668.2:g.51659037G>T	GRCh38
NC_000006.11:g.51523835G>T , CM000668.1:g.51523835G>T	GRCh37
NC_000006.10:g.51631794G>T	NCBI36
NG_008753.1:g.433589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11089C>A MANE Select	ENSP00000360158.3:p.Gln3697Lys
ENST00000371117.7:c.11089C>A	ENSP00000360158.3:p.Gln3697Lys
NM_138694.3:c.11089C>A	NP_619639.3:p.Gln3697Lys
XM_011514679.1:c.11089C>A	XP_011512981.1:p.Gln3697Lys
XM_011514680.1:c.11089C>A	XP_011512982.1:p.Gln3697Lys
XM_011514681.1:c.10960C>A	XP_011512983.1:p.Gln3654Lys
XM_011514682.1:c.10951C>A	XP_011512984.1:p.Gln3651Lys
XM_011514683.1:c.10447C>A	XP_011512985.1:p.Gln3483Lys
XM_011514684.1:c.10378C>A	XP_011512986.1:p.Gln3460Lys
XM_011514687.1:c.10157-9817C>A	XP_011512989.1:n.10157-9817C>A
XM_011514690.1:c.5164C>A	XP_011512992.1:p.Gln1722Lys
XM_011514691.1:c.5164C>A	XP_011512993.1:p.Gln1722Lys
XR_926870.1:n.535+6664G>T
XR_926871.1:n.403+6664G>T
XR_926872.1:n.535+6664G>T
XM_011514680.3:c.11089C>A	XP_011512982.1:p.Gln3697Lys
XM_011514682.3:c.10951C>A	XP_011512984.1:p.Gln3651Lys
XM_011514683.3:c.10447C>A	XP_011512985.1:p.Gln3483Lys
XM_011514684.3:c.10378C>A	XP_011512986.1:p.Gln3460Lys
XM_011514690.3:c.5164C>A	XP_011512992.1:p.Gln1722Lys
XM_011514691.3:c.5164C>A	XP_011512993.1:p.Gln1722Lys
XM_017010944.2:c.11089C>A	XP_016866433.1:p.Gln3697Lys
XM_017010945.2:c.11014C>A	XP_016866434.1:p.Gln3672Lys
XM_017010946.2:c.10894C>A	XP_016866435.1:p.Gln3632Lys
XM_017010947.2:c.10825C>A	XP_016866436.1:p.Gln3609Lys
XM_017010948.2:c.10378C>A	XP_016866437.1:p.Gln3460Lys
XM_017010949.2:c.9229C>A	XP_016866438.1:p.Gln3077Lys
XR_001743469.1:n.11365C>A
XR_001744157.1:n.3145+6664G>T
XR_926870.2:n.3145+6664G>T
XR_926871.2:n.3013+6664G>T
XR_926872.2:n.3145+6664G>T
NM_138694.4:c.11089C>A MANE Select	NP_619639.3:p.Gln3697Lys