Canonical Allele Identifier: CA3850881

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51648029A>G , CM000668.2:g.51648029A>G	GRCh38
NC_000006.11:g.51512827A>G , CM000668.1:g.51512827A>G	GRCh37
NC_000006.10:g.51620786A>G	NCBI36
NG_008753.1:g.444597T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11398+2T>C MANE Select	NP_619639.3:n.11398+2T>C
ENST00000371117.8:c.11398+2T>C MANE Select	ENSP00000360158.3:n.11398+2T>C
NM_138694.3:c.11398+2T>C	NP_619639.3:n.11398+2T>C
ENST00000371117.7:c.11398+2T>C	ENSP00000360158.3:n.11398+2T>C
XM_011514679.1:c.11398+2T>C	XP_011512981.1:n.11398+2T>C
XM_011514680.1:c.11398+2T>C	XP_011512982.1:n.11398+2T>C
XM_011514680.3:c.11398+2T>C	XP_011512982.1:n.11398+2T>C
XM_011514681.1:c.11269+2T>C	XP_011512983.1:n.11269+2T>C
XM_011514682.1:c.11260+2T>C	XP_011512984.1:n.11260+2T>C
XM_011514682.3:c.11260+2T>C	XP_011512984.1:n.11260+2T>C
XM_011514683.1:c.10756+2T>C	XP_011512985.1:n.10756+2T>C
XM_011514683.3:c.10756+2T>C	XP_011512985.1:n.10756+2T>C
XM_011514684.1:c.10687+2T>C	XP_011512986.1:n.10687+2T>C
XM_011514684.3:c.10687+2T>C	XP_011512986.1:n.10687+2T>C
XM_011514690.1:c.5473+2T>C	XP_011512992.1:n.5473+2T>C
XM_011514690.3:c.5473+2T>C	XP_011512992.1:n.5473+2T>C
XM_011514691.1:c.5473+2T>C	XP_011512993.1:n.5473+2T>C
XM_011514691.3:c.5473+2T>C	XP_011512993.1:n.5473+2T>C
XM_017010944.2:c.11398+2T>C	XP_016866433.1:n.11398+2T>C
XM_017010945.2:c.11323+2T>C	XP_016866434.1:n.11323+2T>C
XM_017010946.2:c.11203+2T>C	XP_016866435.1:n.11203+2T>C
XM_017010947.2:c.11134+2T>C	XP_016866436.1:n.11134+2T>C
XM_017010948.2:c.10687+2T>C	XP_016866437.1:n.10687+2T>C
XM_017010949.2:c.9538+2T>C	XP_016866438.1:n.9538+2T>C
XR_001743469.1:n.11688+2T>C