Canonical Allele Identifier: CA364429941

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659004-T-C
• MyVariant Identifiers: chr6:g.51523802T>C (hg19) ; chr6:g.51659004T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659004T>C , CM000668.2:g.51659004T>C	GRCh38
NC_000006.11:g.51523802T>C , CM000668.1:g.51523802T>C	GRCh37
NC_000006.10:g.51631761T>C	NCBI36
NG_008753.1:g.433622A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11122A>G MANE Select	ENSP00000360158.3:p.Met3708Val
ENST00000371117.7:c.11122A>G	ENSP00000360158.3:p.Met3708Val
NM_138694.3:c.11122A>G	NP_619639.3:p.Met3708Val
XM_011514679.1:c.11122A>G	XP_011512981.1:p.Met3708Val
XM_011514680.1:c.11122A>G	XP_011512982.1:p.Met3708Val
XM_011514681.1:c.10993A>G	XP_011512983.1:p.Met3665Val
XM_011514682.1:c.10984A>G	XP_011512984.1:p.Met3662Val
XM_011514683.1:c.10480A>G	XP_011512985.1:p.Met3494Val
XM_011514684.1:c.10411A>G	XP_011512986.1:p.Met3471Val
XM_011514687.1:c.10157-9784A>G	XP_011512989.1:n.10157-9784A>G
XM_011514690.1:c.5197A>G	XP_011512992.1:p.Met1733Val
XM_011514691.1:c.5197A>G	XP_011512993.1:p.Met1733Val
XR_926870.1:n.535+6631T>C
XR_926871.1:n.403+6631T>C
XR_926872.1:n.535+6631T>C
XM_011514680.3:c.11122A>G	XP_011512982.1:p.Met3708Val
XM_011514682.3:c.10984A>G	XP_011512984.1:p.Met3662Val
XM_011514683.3:c.10480A>G	XP_011512985.1:p.Met3494Val
XM_011514684.3:c.10411A>G	XP_011512986.1:p.Met3471Val
XM_011514690.3:c.5197A>G	XP_011512992.1:p.Met1733Val
XM_011514691.3:c.5197A>G	XP_011512993.1:p.Met1733Val
XM_017010944.2:c.11122A>G	XP_016866433.1:p.Met3708Val
XM_017010945.2:c.11047A>G	XP_016866434.1:p.Met3683Val
XM_017010946.2:c.10927A>G	XP_016866435.1:p.Met3643Val
XM_017010947.2:c.10858A>G	XP_016866436.1:p.Met3620Val
XM_017010948.2:c.10411A>G	XP_016866437.1:p.Met3471Val
XM_017010949.2:c.9262A>G	XP_016866438.1:p.Met3088Val
XR_001743469.1:n.11398A>G
XR_001744157.1:n.3145+6631T>C
XR_926870.2:n.3145+6631T>C
XR_926871.2:n.3013+6631T>C
XR_926872.2:n.3145+6631T>C
NM_138694.4:c.11122A>G MANE Select	NP_619639.3:p.Met3708Val