Canonical Allele Identifier: CA364436151

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524575C>G (hg19) ; chr6:g.51659777C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659777C>G , CM000668.2:g.51659777C>G	GRCh38
NC_000006.11:g.51524575C>G , CM000668.1:g.51524575C>G	GRCh37
NC_000006.10:g.51632534C>G	NCBI36
NG_008753.1:g.432849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10349G>C MANE Select	ENSP00000360158.3:p.Cys3450Ser
ENST00000371117.7:c.10349G>C	ENSP00000360158.3:p.Cys3450Ser
NM_138694.3:c.10349G>C	NP_619639.3:p.Cys3450Ser
XM_011514679.1:c.10349G>C	XP_011512981.1:p.Cys3450Ser
XM_011514680.1:c.10349G>C	XP_011512982.1:p.Cys3450Ser
XM_011514681.1:c.10220G>C	XP_011512983.1:p.Cys3407Ser
XM_011514682.1:c.10211G>C	XP_011512984.1:p.Cys3404Ser
XM_011514683.1:c.9707G>C	XP_011512985.1:p.Cys3236Ser
XM_011514684.1:c.9638G>C	XP_011512986.1:p.Cys3213Ser
XM_011514687.1:c.10157-10557G>C	XP_011512989.1:n.10157-10557G>C
XM_011514690.1:c.4424G>C	XP_011512992.1:p.Cys1475Ser
XM_011514691.1:c.4424G>C	XP_011512993.1:p.Cys1475Ser
XR_926870.1:n.535+7404C>G
XR_926871.1:n.403+7404C>G
XR_926872.1:n.535+7404C>G
XM_011514680.3:c.10349G>C	XP_011512982.1:p.Cys3450Ser
XM_011514682.3:c.10211G>C	XP_011512984.1:p.Cys3404Ser
XM_011514683.3:c.9707G>C	XP_011512985.1:p.Cys3236Ser
XM_011514684.3:c.9638G>C	XP_011512986.1:p.Cys3213Ser
XM_011514690.3:c.4424G>C	XP_011512992.1:p.Cys1475Ser
XM_011514691.3:c.4424G>C	XP_011512993.1:p.Cys1475Ser
XM_017010944.2:c.10349G>C	XP_016866433.1:p.Cys3450Ser
XM_017010945.2:c.10274G>C	XP_016866434.1:p.Cys3425Ser
XM_017010946.2:c.10154G>C	XP_016866435.1:p.Cys3385Ser
XM_017010947.2:c.10085G>C	XP_016866436.1:p.Cys3362Ser
XM_017010948.2:c.9638G>C	XP_016866437.1:p.Cys3213Ser
XM_017010949.2:c.8489G>C	XP_016866438.1:p.Cys2830Ser
XR_001743469.1:n.10625G>C
XR_001744157.1:n.3145+7404C>G
XR_926870.2:n.3145+7404C>G
XR_926871.2:n.3013+7404C>G
XR_926872.2:n.3145+7404C>G
NM_138694.4:c.10349G>C MANE Select	NP_619639.3:p.Cys3450Ser