Canonical Allele Identifier: CA364434005

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524360A>G (hg19) ; chr6:g.51659562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659562A>G , CM000668.2:g.51659562A>G	GRCh38
NC_000006.11:g.51524360A>G , CM000668.1:g.51524360A>G	GRCh37
NC_000006.10:g.51632319A>G	NCBI36
NG_008753.1:g.433064T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10564T>C MANE Select	ENSP00000360158.3:p.Ser3522Pro
ENST00000371117.7:c.10564T>C	ENSP00000360158.3:p.Ser3522Pro
NM_138694.3:c.10564T>C	NP_619639.3:p.Ser3522Pro
XM_011514679.1:c.10564T>C	XP_011512981.1:p.Ser3522Pro
XM_011514680.1:c.10564T>C	XP_011512982.1:p.Ser3522Pro
XM_011514681.1:c.10435T>C	XP_011512983.1:p.Ser3479Pro
XM_011514682.1:c.10426T>C	XP_011512984.1:p.Ser3476Pro
XM_011514683.1:c.9922T>C	XP_011512985.1:p.Ser3308Pro
XM_011514684.1:c.9853T>C	XP_011512986.1:p.Ser3285Pro
XM_011514687.1:c.10157-10342T>C	XP_011512989.1:n.10157-10342T>C
XM_011514690.1:c.4639T>C	XP_011512992.1:p.Ser1547Pro
XM_011514691.1:c.4639T>C	XP_011512993.1:p.Ser1547Pro
XR_926870.1:n.535+7189A>G
XR_926871.1:n.403+7189A>G
XR_926872.1:n.535+7189A>G
XM_011514680.3:c.10564T>C	XP_011512982.1:p.Ser3522Pro
XM_011514682.3:c.10426T>C	XP_011512984.1:p.Ser3476Pro
XM_011514683.3:c.9922T>C	XP_011512985.1:p.Ser3308Pro
XM_011514684.3:c.9853T>C	XP_011512986.1:p.Ser3285Pro
XM_011514690.3:c.4639T>C	XP_011512992.1:p.Ser1547Pro
XM_011514691.3:c.4639T>C	XP_011512993.1:p.Ser1547Pro
XM_017010944.2:c.10564T>C	XP_016866433.1:p.Ser3522Pro
XM_017010945.2:c.10489T>C	XP_016866434.1:p.Ser3497Pro
XM_017010946.2:c.10369T>C	XP_016866435.1:p.Ser3457Pro
XM_017010947.2:c.10300T>C	XP_016866436.1:p.Ser3434Pro
XM_017010948.2:c.9853T>C	XP_016866437.1:p.Ser3285Pro
XM_017010949.2:c.8704T>C	XP_016866438.1:p.Ser2902Pro
XR_001743469.1:n.10840T>C
XR_001744157.1:n.3145+7189A>G
XR_926870.2:n.3145+7189A>G
XR_926871.2:n.3013+7189A>G
XR_926872.2:n.3145+7189A>G
NM_138694.4:c.10564T>C MANE Select	NP_619639.3:p.Ser3522Pro