Canonical Allele Identifier: CA364434274

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524388T>G (hg19) ; chr6:g.51659590T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659590T>G , CM000668.2:g.51659590T>G	GRCh38
NC_000006.11:g.51524388T>G , CM000668.1:g.51524388T>G	GRCh37
NC_000006.10:g.51632347T>G	NCBI36
NG_008753.1:g.433036A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10536A>C MANE Select	ENSP00000360158.3:p.Glu3512Asp
ENST00000371117.7:c.10536A>C	ENSP00000360158.3:p.Glu3512Asp
NM_138694.3:c.10536A>C	NP_619639.3:p.Glu3512Asp
XM_011514679.1:c.10536A>C	XP_011512981.1:p.Glu3512Asp
XM_011514680.1:c.10536A>C	XP_011512982.1:p.Glu3512Asp
XM_011514681.1:c.10407A>C	XP_011512983.1:p.Glu3469Asp
XM_011514682.1:c.10398A>C	XP_011512984.1:p.Glu3466Asp
XM_011514683.1:c.9894A>C	XP_011512985.1:p.Glu3298Asp
XM_011514684.1:c.9825A>C	XP_011512986.1:p.Glu3275Asp
XM_011514687.1:c.10157-10370A>C	XP_011512989.1:n.10157-10370A>C
XM_011514690.1:c.4611A>C	XP_011512992.1:p.Glu1537Asp
XM_011514691.1:c.4611A>C	XP_011512993.1:p.Glu1537Asp
XR_926870.1:n.535+7217T>G
XR_926871.1:n.403+7217T>G
XR_926872.1:n.535+7217T>G
XM_011514680.3:c.10536A>C	XP_011512982.1:p.Glu3512Asp
XM_011514682.3:c.10398A>C	XP_011512984.1:p.Glu3466Asp
XM_011514683.3:c.9894A>C	XP_011512985.1:p.Glu3298Asp
XM_011514684.3:c.9825A>C	XP_011512986.1:p.Glu3275Asp
XM_011514690.3:c.4611A>C	XP_011512992.1:p.Glu1537Asp
XM_011514691.3:c.4611A>C	XP_011512993.1:p.Glu1537Asp
XM_017010944.2:c.10536A>C	XP_016866433.1:p.Glu3512Asp
XM_017010945.2:c.10461A>C	XP_016866434.1:p.Glu3487Asp
XM_017010946.2:c.10341A>C	XP_016866435.1:p.Glu3447Asp
XM_017010947.2:c.10272A>C	XP_016866436.1:p.Glu3424Asp
XM_017010948.2:c.9825A>C	XP_016866437.1:p.Glu3275Asp
XM_017010949.2:c.8676A>C	XP_016866438.1:p.Glu2892Asp
XR_001743469.1:n.10812A>C
XR_001744157.1:n.3145+7217T>G
XR_926870.2:n.3145+7217T>G
XR_926871.2:n.3013+7217T>G
XR_926872.2:n.3145+7217T>G
NM_138694.4:c.10536A>C MANE Select	NP_619639.3:p.Glu3512Asp