Canonical Allele Identifier: CA364418410

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491815T>A (hg19) ; chr6:g.51627017T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627017T>A , CM000668.2:g.51627017T>A	GRCh38
NC_000006.11:g.51491815T>A , CM000668.1:g.51491815T>A	GRCh37
NC_000006.10:g.51599774T>A	NCBI36
NG_008753.1:g.465609A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11765A>T MANE Select	ENSP00000360158.3:p.Glu3922Val
ENST00000371117.7:c.11765A>T	ENSP00000360158.3:p.Glu3922Val
NM_138694.3:c.11765A>T	NP_619639.3:p.Glu3922Val
XM_011514679.1:c.11765A>T	XP_011512981.1:p.Glu3922Val
XM_011514680.1:c.11765A>T	XP_011512982.1:p.Glu3922Val
XM_011514681.1:c.11636A>T	XP_011512983.1:p.Glu3879Val
XM_011514682.1:c.11627A>T	XP_011512984.1:p.Glu3876Val
XM_011514683.1:c.11123A>T	XP_011512985.1:p.Glu3708Val
XM_011514684.1:c.11054A>T	XP_011512986.1:p.Glu3685Val
XM_011514690.1:c.5840A>T	XP_011512992.1:p.Glu1947Val
XM_011514691.1:c.5840A>T	XP_011512993.1:p.Glu1947Val
XM_011514680.3:c.11765A>T	XP_011512982.1:p.Glu3922Val
XM_011514682.3:c.11627A>T	XP_011512984.1:p.Glu3876Val
XM_011514683.3:c.11123A>T	XP_011512985.1:p.Glu3708Val
XM_011514684.3:c.11054A>T	XP_011512986.1:p.Glu3685Val
XM_011514690.3:c.5840A>T	XP_011512992.1:p.Glu1947Val
XM_011514691.3:c.5840A>T	XP_011512993.1:p.Glu1947Val
XM_017010944.2:c.11765A>T	XP_016866433.1:p.Glu3922Val
XM_017010945.2:c.11690A>T	XP_016866434.1:p.Glu3897Val
XM_017010946.2:c.11570A>T	XP_016866435.1:p.Glu3857Val
XM_017010947.2:c.11501A>T	XP_016866436.1:p.Glu3834Val
XM_017010948.2:c.11054A>T	XP_016866437.1:p.Glu3685Val
XM_017010949.2:c.9905A>T	XP_016866438.1:p.Glu3302Val
NM_138694.4:c.11765A>T MANE Select	NP_619639.3:p.Glu3922Val