Canonical Allele Identifier: CA364430825

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659150G>C , CM000668.2:g.51659150G>C	GRCh38
NC_000006.11:g.51523948G>C , CM000668.1:g.51523948G>C	GRCh37
NC_000006.10:g.51631907G>C	NCBI36
NG_008753.1:g.433476C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.10976C>G MANE Select	NP_619639.3:p.Ser3659Ter
ENST00000371117.8:c.10976C>G MANE Select	ENSP00000360158.3:p.Ser3659Ter
NM_138694.3:c.10976C>G	NP_619639.3:p.Ser3659Ter
ENST00000371117.7:c.10976C>G	ENSP00000360158.3:p.Ser3659Ter
XM_011514679.1:c.10976C>G	XP_011512981.1:p.Ser3659Ter
XM_011514680.1:c.10976C>G	XP_011512982.1:p.Ser3659Ter
XM_011514680.3:c.10976C>G	XP_011512982.1:p.Ser3659Ter
XM_011514681.1:c.10847C>G	XP_011512983.1:p.Ser3616Ter
XM_011514682.1:c.10838C>G	XP_011512984.1:p.Ser3613Ter
XM_011514682.3:c.10838C>G	XP_011512984.1:p.Ser3613Ter
XM_011514683.1:c.10334C>G	XP_011512985.1:p.Ser3445Ter
XM_011514683.3:c.10334C>G	XP_011512985.1:p.Ser3445Ter
XM_011514684.1:c.10265C>G	XP_011512986.1:p.Ser3422Ter
XM_011514684.3:c.10265C>G	XP_011512986.1:p.Ser3422Ter
XM_011514687.1:c.10157-9930C>G	XP_011512989.1:n.10157-9930C>G
XM_011514690.1:c.5051C>G	XP_011512992.1:p.Ser1684Ter
XM_011514690.3:c.5051C>G	XP_011512992.1:p.Ser1684Ter
XM_011514691.1:c.5051C>G	XP_011512993.1:p.Ser1684Ter
XM_011514691.3:c.5051C>G	XP_011512993.1:p.Ser1684Ter
XM_017010944.2:c.10976C>G	XP_016866433.1:p.Ser3659Ter
XM_017010945.2:c.10901C>G	XP_016866434.1:p.Ser3634Ter
XM_017010946.2:c.10781C>G	XP_016866435.1:p.Ser3594Ter
XM_017010947.2:c.10712C>G	XP_016866436.1:p.Ser3571Ter
XM_017010948.2:c.10265C>G	XP_016866437.1:p.Ser3422Ter
XM_017010949.2:c.9116C>G	XP_016866438.1:p.Ser3039Ter
XR_001743469.1:n.11252C>G
XR_001744157.1:n.3145+6777G>C
XR_926870.1:n.535+6777G>C
XR_926870.2:n.3145+6777G>C
XR_926871.1:n.403+6777G>C
XR_926871.2:n.3013+6777G>C
XR_926872.1:n.535+6777G>C
XR_926872.2:n.3145+6777G>C