Canonical Allele Identifier: CA450612734

Gene: PKHD1

Linked Data

• dbSNP Id: rs1405895966
• gnomAD v2: 6-51524016-T-C
• gnomAD v4: 6-51659218-T-C
• MyVariant Identifiers: chr6:g.51524016T>C (hg19) ; chr6:g.51659218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659218T>C , CM000668.2:g.51659218T>C	GRCh38
NC_000006.11:g.51524016T>C , CM000668.1:g.51524016T>C	GRCh37
NC_000006.10:g.51631975T>C	NCBI36
NG_008753.1:g.433408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10908A>G MANE Select	ENSP00000360158.3:p.Gln3636=
ENST00000371117.7:c.10908A>G	ENSP00000360158.3:p.Gln3636=
NM_138694.3:c.10908A>G	NP_619639.3:p.Gln3636=
XM_011514679.1:c.10908A>G	XP_011512981.1:p.Gln3636=
XM_011514680.1:c.10908A>G	XP_011512982.1:p.Gln3636=
XM_011514681.1:c.10779A>G	XP_011512983.1:p.Gln3593=
XM_011514682.1:c.10770A>G	XP_011512984.1:p.Gln3590=
XM_011514683.1:c.10266A>G	XP_011512985.1:p.Gln3422=
XM_011514684.1:c.10197A>G	XP_011512986.1:p.Gln3399=
XM_011514687.1:c.10157-9998A>G	XP_011512989.1:n.10157-9998A>G
XM_011514690.1:c.4983A>G	XP_011512992.1:p.Gln1661=
XM_011514691.1:c.4983A>G	XP_011512993.1:p.Gln1661=
XR_926870.1:n.535+6845T>C
XR_926871.1:n.403+6845T>C
XR_926872.1:n.535+6845T>C
XM_011514680.3:c.10908A>G	XP_011512982.1:p.Gln3636=
XM_011514682.3:c.10770A>G	XP_011512984.1:p.Gln3590=
XM_011514683.3:c.10266A>G	XP_011512985.1:p.Gln3422=
XM_011514684.3:c.10197A>G	XP_011512986.1:p.Gln3399=
XM_011514690.3:c.4983A>G	XP_011512992.1:p.Gln1661=
XM_011514691.3:c.4983A>G	XP_011512993.1:p.Gln1661=
XM_017010944.2:c.10908A>G	XP_016866433.1:p.Gln3636=
XM_017010945.2:c.10833A>G	XP_016866434.1:p.Gln3611=
XM_017010946.2:c.10713A>G	XP_016866435.1:p.Gln3571=
XM_017010947.2:c.10644A>G	XP_016866436.1:p.Gln3548=
XM_017010948.2:c.10197A>G	XP_016866437.1:p.Gln3399=
XM_017010949.2:c.9048A>G	XP_016866438.1:p.Gln3016=
XR_001743469.1:n.11184A>G
XR_001744157.1:n.3145+6845T>C
XR_926870.2:n.3145+6845T>C
XR_926871.2:n.3013+6845T>C
XR_926872.2:n.3145+6845T>C
NM_138694.4:c.10908A>G MANE Select	NP_619639.3:p.Gln3636=