Canonical Allele Identifier: CA364431037

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523976A>T (hg19) ; chr6:g.51659178A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659178A>T , CM000668.2:g.51659178A>T	GRCh38
NC_000006.11:g.51523976A>T , CM000668.1:g.51523976A>T	GRCh37
NC_000006.10:g.51631935A>T	NCBI36
NG_008753.1:g.433448T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10948T>A MANE Select	ENSP00000360158.3:p.Ser3650Thr
ENST00000371117.7:c.10948T>A	ENSP00000360158.3:p.Ser3650Thr
NM_138694.3:c.10948T>A	NP_619639.3:p.Ser3650Thr
XM_011514679.1:c.10948T>A	XP_011512981.1:p.Ser3650Thr
XM_011514680.1:c.10948T>A	XP_011512982.1:p.Ser3650Thr
XM_011514681.1:c.10819T>A	XP_011512983.1:p.Ser3607Thr
XM_011514682.1:c.10810T>A	XP_011512984.1:p.Ser3604Thr
XM_011514683.1:c.10306T>A	XP_011512985.1:p.Ser3436Thr
XM_011514684.1:c.10237T>A	XP_011512986.1:p.Ser3413Thr
XM_011514687.1:c.10157-9958T>A	XP_011512989.1:n.10157-9958T>A
XM_011514690.1:c.5023T>A	XP_011512992.1:p.Ser1675Thr
XM_011514691.1:c.5023T>A	XP_011512993.1:p.Ser1675Thr
XR_926870.1:n.535+6805A>T
XR_926871.1:n.403+6805A>T
XR_926872.1:n.535+6805A>T
XM_011514680.3:c.10948T>A	XP_011512982.1:p.Ser3650Thr
XM_011514682.3:c.10810T>A	XP_011512984.1:p.Ser3604Thr
XM_011514683.3:c.10306T>A	XP_011512985.1:p.Ser3436Thr
XM_011514684.3:c.10237T>A	XP_011512986.1:p.Ser3413Thr
XM_011514690.3:c.5023T>A	XP_011512992.1:p.Ser1675Thr
XM_011514691.3:c.5023T>A	XP_011512993.1:p.Ser1675Thr
XM_017010944.2:c.10948T>A	XP_016866433.1:p.Ser3650Thr
XM_017010945.2:c.10873T>A	XP_016866434.1:p.Ser3625Thr
XM_017010946.2:c.10753T>A	XP_016866435.1:p.Ser3585Thr
XM_017010947.2:c.10684T>A	XP_016866436.1:p.Ser3562Thr
XM_017010948.2:c.10237T>A	XP_016866437.1:p.Ser3413Thr
XM_017010949.2:c.9088T>A	XP_016866438.1:p.Ser3030Thr
XR_001743469.1:n.11224T>A
XR_001744157.1:n.3145+6805A>T
XR_926870.2:n.3145+6805A>T
XR_926871.2:n.3013+6805A>T
XR_926872.2:n.3145+6805A>T
NM_138694.4:c.10948T>A MANE Select	NP_619639.3:p.Ser3650Thr