Canonical Allele Identifier: CA364435518

Gene: PKHD1

Linked Data

• dbSNP Id: rs1581894576
• MyVariant Identifiers: chr6:g.51524498G>C (hg19) ; chr6:g.51659700G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659700G>C , CM000668.2:g.51659700G>C	GRCh38
NC_000006.11:g.51524498G>C , CM000668.1:g.51524498G>C	GRCh37
NC_000006.10:g.51632457G>C	NCBI36
NG_008753.1:g.432926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10426C>G MANE Select	ENSP00000360158.3:p.Gln3476Glu
ENST00000371117.7:c.10426C>G	ENSP00000360158.3:p.Gln3476Glu
NM_138694.3:c.10426C>G	NP_619639.3:p.Gln3476Glu
XM_011514679.1:c.10426C>G	XP_011512981.1:p.Gln3476Glu
XM_011514680.1:c.10426C>G	XP_011512982.1:p.Gln3476Glu
XM_011514681.1:c.10297C>G	XP_011512983.1:p.Gln3433Glu
XM_011514682.1:c.10288C>G	XP_011512984.1:p.Gln3430Glu
XM_011514683.1:c.9784C>G	XP_011512985.1:p.Gln3262Glu
XM_011514684.1:c.9715C>G	XP_011512986.1:p.Gln3239Glu
XM_011514687.1:c.10157-10480C>G	XP_011512989.1:n.10157-10480C>G
XM_011514690.1:c.4501C>G	XP_011512992.1:p.Gln1501Glu
XM_011514691.1:c.4501C>G	XP_011512993.1:p.Gln1501Glu
XR_926870.1:n.535+7327G>C
XR_926871.1:n.403+7327G>C
XR_926872.1:n.535+7327G>C
XM_011514680.3:c.10426C>G	XP_011512982.1:p.Gln3476Glu
XM_011514682.3:c.10288C>G	XP_011512984.1:p.Gln3430Glu
XM_011514683.3:c.9784C>G	XP_011512985.1:p.Gln3262Glu
XM_011514684.3:c.9715C>G	XP_011512986.1:p.Gln3239Glu
XM_011514690.3:c.4501C>G	XP_011512992.1:p.Gln1501Glu
XM_011514691.3:c.4501C>G	XP_011512993.1:p.Gln1501Glu
XM_017010944.2:c.10426C>G	XP_016866433.1:p.Gln3476Glu
XM_017010945.2:c.10351C>G	XP_016866434.1:p.Gln3451Glu
XM_017010946.2:c.10231C>G	XP_016866435.1:p.Gln3411Glu
XM_017010947.2:c.10162C>G	XP_016866436.1:p.Gln3388Glu
XM_017010948.2:c.9715C>G	XP_016866437.1:p.Gln3239Glu
XM_017010949.2:c.8566C>G	XP_016866438.1:p.Gln2856Glu
XR_001743469.1:n.10702C>G
XR_001744157.1:n.3145+7327G>C
XR_926870.2:n.3145+7327G>C
XR_926871.2:n.3013+7327G>C
XR_926872.2:n.3145+7327G>C
NM_138694.4:c.10426C>G MANE Select	NP_619639.3:p.Gln3476Glu