Canonical Allele Identifier: CA364431561

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659267-C-G
• MyVariant Identifiers: chr6:g.51524065C>G (hg19) ; chr6:g.51659267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659267C>G , CM000668.2:g.51659267C>G	GRCh38
NC_000006.11:g.51524065C>G , CM000668.1:g.51524065C>G	GRCh37
NC_000006.10:g.51632024C>G	NCBI36
NG_008753.1:g.433359G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10859G>C MANE Select	ENSP00000360158.3:p.Arg3620Pro
ENST00000371117.7:c.10859G>C	ENSP00000360158.3:p.Arg3620Pro
NM_138694.3:c.10859G>C	NP_619639.3:p.Arg3620Pro
XM_011514679.1:c.10859G>C	XP_011512981.1:p.Arg3620Pro
XM_011514680.1:c.10859G>C	XP_011512982.1:p.Arg3620Pro
XM_011514681.1:c.10730G>C	XP_011512983.1:p.Arg3577Pro
XM_011514682.1:c.10721G>C	XP_011512984.1:p.Arg3574Pro
XM_011514683.1:c.10217G>C	XP_011512985.1:p.Arg3406Pro
XM_011514684.1:c.10148G>C	XP_011512986.1:p.Arg3383Pro
XM_011514687.1:c.10157-10047G>C	XP_011512989.1:n.10157-10047G>C
XM_011514690.1:c.4934G>C	XP_011512992.1:p.Arg1645Pro
XM_011514691.1:c.4934G>C	XP_011512993.1:p.Arg1645Pro
XR_926870.1:n.535+6894C>G
XR_926871.1:n.403+6894C>G
XR_926872.1:n.535+6894C>G
XM_011514680.3:c.10859G>C	XP_011512982.1:p.Arg3620Pro
XM_011514682.3:c.10721G>C	XP_011512984.1:p.Arg3574Pro
XM_011514683.3:c.10217G>C	XP_011512985.1:p.Arg3406Pro
XM_011514684.3:c.10148G>C	XP_011512986.1:p.Arg3383Pro
XM_011514690.3:c.4934G>C	XP_011512992.1:p.Arg1645Pro
XM_011514691.3:c.4934G>C	XP_011512993.1:p.Arg1645Pro
XM_017010944.2:c.10859G>C	XP_016866433.1:p.Arg3620Pro
XM_017010945.2:c.10784G>C	XP_016866434.1:p.Arg3595Pro
XM_017010946.2:c.10664G>C	XP_016866435.1:p.Arg3555Pro
XM_017010947.2:c.10595G>C	XP_016866436.1:p.Arg3532Pro
XM_017010948.2:c.10148G>C	XP_016866437.1:p.Arg3383Pro
XM_017010949.2:c.8999G>C	XP_016866438.1:p.Arg3000Pro
XR_001743469.1:n.11135G>C
XR_001744157.1:n.3145+6894C>G
XR_926870.2:n.3145+6894C>G
XR_926871.2:n.3013+6894C>G
XR_926872.2:n.3145+6894C>G
NM_138694.4:c.10859G>C MANE Select	NP_619639.3:p.Arg3620Pro