Canonical Allele Identifier: CA364434690

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524429A>G (hg19) ; chr6:g.51659631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659631A>G , CM000668.2:g.51659631A>G	GRCh38
NC_000006.11:g.51524429A>G , CM000668.1:g.51524429A>G	GRCh37
NC_000006.10:g.51632388A>G	NCBI36
NG_008753.1:g.432995T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10495T>C MANE Select	ENSP00000360158.3:p.Phe3499Leu
ENST00000371117.7:c.10495T>C	ENSP00000360158.3:p.Phe3499Leu
NM_138694.3:c.10495T>C	NP_619639.3:p.Phe3499Leu
XM_011514679.1:c.10495T>C	XP_011512981.1:p.Phe3499Leu
XM_011514680.1:c.10495T>C	XP_011512982.1:p.Phe3499Leu
XM_011514681.1:c.10366T>C	XP_011512983.1:p.Phe3456Leu
XM_011514682.1:c.10357T>C	XP_011512984.1:p.Phe3453Leu
XM_011514683.1:c.9853T>C	XP_011512985.1:p.Phe3285Leu
XM_011514684.1:c.9784T>C	XP_011512986.1:p.Phe3262Leu
XM_011514687.1:c.10157-10411T>C	XP_011512989.1:n.10157-10411T>C
XM_011514690.1:c.4570T>C	XP_011512992.1:p.Phe1524Leu
XM_011514691.1:c.4570T>C	XP_011512993.1:p.Phe1524Leu
XR_926870.1:n.535+7258A>G
XR_926871.1:n.403+7258A>G
XR_926872.1:n.535+7258A>G
XM_011514680.3:c.10495T>C	XP_011512982.1:p.Phe3499Leu
XM_011514682.3:c.10357T>C	XP_011512984.1:p.Phe3453Leu
XM_011514683.3:c.9853T>C	XP_011512985.1:p.Phe3285Leu
XM_011514684.3:c.9784T>C	XP_011512986.1:p.Phe3262Leu
XM_011514690.3:c.4570T>C	XP_011512992.1:p.Phe1524Leu
XM_011514691.3:c.4570T>C	XP_011512993.1:p.Phe1524Leu
XM_017010944.2:c.10495T>C	XP_016866433.1:p.Phe3499Leu
XM_017010945.2:c.10420T>C	XP_016866434.1:p.Phe3474Leu
XM_017010946.2:c.10300T>C	XP_016866435.1:p.Phe3434Leu
XM_017010947.2:c.10231T>C	XP_016866436.1:p.Phe3411Leu
XM_017010948.2:c.9784T>C	XP_016866437.1:p.Phe3262Leu
XM_017010949.2:c.8635T>C	XP_016866438.1:p.Phe2879Leu
XR_001743469.1:n.10771T>C
XR_001744157.1:n.3145+7258A>G
XR_926870.2:n.3145+7258A>G
XR_926871.2:n.3013+7258A>G
XR_926872.2:n.3145+7258A>G
NM_138694.4:c.10495T>C MANE Select	NP_619639.3:p.Phe3499Leu