Canonical Allele Identifier: CA364436314

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524597T>G (hg19) ; chr6:g.51659799T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659799T>G , CM000668.2:g.51659799T>G	GRCh38
NC_000006.11:g.51524597T>G , CM000668.1:g.51524597T>G	GRCh37
NC_000006.10:g.51632556T>G	NCBI36
NG_008753.1:g.432827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10327A>C MANE Select	ENSP00000360158.3:p.Ser3443Arg
ENST00000371117.7:c.10327A>C	ENSP00000360158.3:p.Ser3443Arg
NM_138694.3:c.10327A>C	NP_619639.3:p.Ser3443Arg
XM_011514679.1:c.10327A>C	XP_011512981.1:p.Ser3443Arg
XM_011514680.1:c.10327A>C	XP_011512982.1:p.Ser3443Arg
XM_011514681.1:c.10198A>C	XP_011512983.1:p.Ser3400Arg
XM_011514682.1:c.10189A>C	XP_011512984.1:p.Ser3397Arg
XM_011514683.1:c.9685A>C	XP_011512985.1:p.Ser3229Arg
XM_011514684.1:c.9616A>C	XP_011512986.1:p.Ser3206Arg
XM_011514687.1:c.10157-10579A>C	XP_011512989.1:n.10157-10579A>C
XM_011514690.1:c.4402A>C	XP_011512992.1:p.Ser1468Arg
XM_011514691.1:c.4402A>C	XP_011512993.1:p.Ser1468Arg
XR_926870.1:n.535+7426T>G
XR_926871.1:n.403+7426T>G
XR_926872.1:n.535+7426T>G
XM_011514680.3:c.10327A>C	XP_011512982.1:p.Ser3443Arg
XM_011514682.3:c.10189A>C	XP_011512984.1:p.Ser3397Arg
XM_011514683.3:c.9685A>C	XP_011512985.1:p.Ser3229Arg
XM_011514684.3:c.9616A>C	XP_011512986.1:p.Ser3206Arg
XM_011514690.3:c.4402A>C	XP_011512992.1:p.Ser1468Arg
XM_011514691.3:c.4402A>C	XP_011512993.1:p.Ser1468Arg
XM_017010944.2:c.10327A>C	XP_016866433.1:p.Ser3443Arg
XM_017010945.2:c.10252A>C	XP_016866434.1:p.Ser3418Arg
XM_017010946.2:c.10132A>C	XP_016866435.1:p.Ser3378Arg
XM_017010947.2:c.10063A>C	XP_016866436.1:p.Ser3355Arg
XM_017010948.2:c.9616A>C	XP_016866437.1:p.Ser3206Arg
XM_017010949.2:c.8467A>C	XP_016866438.1:p.Ser2823Arg
XR_001743469.1:n.10603A>C
XR_001744157.1:n.3145+7426T>G
XR_926870.2:n.3145+7426T>G
XR_926871.2:n.3013+7426T>G
XR_926872.2:n.3145+7426T>G
NM_138694.4:c.10327A>C MANE Select	NP_619639.3:p.Ser3443Arg