Canonical Allele Identifier: CA364430481

Gene: PKHD1

Linked Data

• dbSNP Id: rs1400212034
• gnomAD v4: 6-51659100-C-T
• MyVariant Identifiers: chr6:g.51523898C>T (hg19) ; chr6:g.51659100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659100C>T , CM000668.2:g.51659100C>T	GRCh38
NC_000006.11:g.51523898C>T , CM000668.1:g.51523898C>T	GRCh37
NC_000006.10:g.51631857C>T	NCBI36
NG_008753.1:g.433526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11026G>A MANE Select	ENSP00000360158.3:p.Gly3676Arg
ENST00000371117.7:c.11026G>A	ENSP00000360158.3:p.Gly3676Arg
NM_138694.3:c.11026G>A	NP_619639.3:p.Gly3676Arg
XM_011514679.1:c.11026G>A	XP_011512981.1:p.Gly3676Arg
XM_011514680.1:c.11026G>A	XP_011512982.1:p.Gly3676Arg
XM_011514681.1:c.10897G>A	XP_011512983.1:p.Gly3633Arg
XM_011514682.1:c.10888G>A	XP_011512984.1:p.Gly3630Arg
XM_011514683.1:c.10384G>A	XP_011512985.1:p.Gly3462Arg
XM_011514684.1:c.10315G>A	XP_011512986.1:p.Gly3439Arg
XM_011514687.1:c.10157-9880G>A	XP_011512989.1:n.10157-9880G>A
XM_011514690.1:c.5101G>A	XP_011512992.1:p.Gly1701Arg
XM_011514691.1:c.5101G>A	XP_011512993.1:p.Gly1701Arg
XR_926870.1:n.535+6727C>T
XR_926871.1:n.403+6727C>T
XR_926872.1:n.535+6727C>T
XM_011514680.3:c.11026G>A	XP_011512982.1:p.Gly3676Arg
XM_011514682.3:c.10888G>A	XP_011512984.1:p.Gly3630Arg
XM_011514683.3:c.10384G>A	XP_011512985.1:p.Gly3462Arg
XM_011514684.3:c.10315G>A	XP_011512986.1:p.Gly3439Arg
XM_011514690.3:c.5101G>A	XP_011512992.1:p.Gly1701Arg
XM_011514691.3:c.5101G>A	XP_011512993.1:p.Gly1701Arg
XM_017010944.2:c.11026G>A	XP_016866433.1:p.Gly3676Arg
XM_017010945.2:c.10951G>A	XP_016866434.1:p.Gly3651Arg
XM_017010946.2:c.10831G>A	XP_016866435.1:p.Gly3611Arg
XM_017010947.2:c.10762G>A	XP_016866436.1:p.Gly3588Arg
XM_017010948.2:c.10315G>A	XP_016866437.1:p.Gly3439Arg
XM_017010949.2:c.9166G>A	XP_016866438.1:p.Gly3056Arg
XR_001743469.1:n.11302G>A
XR_001744157.1:n.3145+6727C>T
XR_926870.2:n.3145+6727C>T
XR_926871.2:n.3013+6727C>T
XR_926872.2:n.3145+6727C>T
NM_138694.4:c.11026G>A MANE Select	NP_619639.3:p.Gly3676Arg