Canonical Allele Identifier: CA149486

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619428C>T , CM000668.2:g.51619428C>T	GRCh38
NC_000006.11:g.51484226C>T , CM000668.1:g.51484226C>T	GRCh37
NC_000006.10:g.51592185C>T	NCBI36
NG_008753.1:g.473198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11878G>A MANE Select	ENSP00000360158.3:p.Val3960Ile
ENST00000371117.7:c.11878G>A	ENSP00000360158.3:p.Val3960Ile
NM_138694.3:c.11878G>A	NP_619639.3:p.Val3960Ile
XM_011514679.1:c.11878G>A	XP_011512981.1:p.Val3960Ile
XM_011514680.1:c.11878G>A	XP_011512982.1:p.Val3960Ile
XM_011514681.1:c.11749G>A	XP_011512983.1:p.Val3917Ile
XM_011514682.1:c.11740G>A	XP_011512984.1:p.Val3914Ile
XM_011514683.1:c.11236G>A	XP_011512985.1:p.Val3746Ile
XM_011514684.1:c.11167G>A	XP_011512986.1:p.Val3723Ile
XM_011514690.1:c.5953G>A	XP_011512992.1:p.Val1985Ile
XM_011514691.1:c.5953G>A	XP_011512993.1:p.Val1985Ile
XM_011514680.3:c.11878G>A	XP_011512982.1:p.Val3960Ile
XM_011514682.3:c.11740G>A	XP_011512984.1:p.Val3914Ile
XM_011514683.3:c.11236G>A	XP_011512985.1:p.Val3746Ile
XM_011514684.3:c.11167G>A	XP_011512986.1:p.Val3723Ile
XM_011514690.3:c.5953G>A	XP_011512992.1:p.Val1985Ile
XM_011514691.3:c.5953G>A	XP_011512993.1:p.Val1985Ile
XM_017010944.2:c.11878G>A	XP_016866433.1:p.Val3960Ile
XM_017010945.2:c.11803G>A	XP_016866434.1:p.Val3935Ile
XM_017010946.2:c.11683G>A	XP_016866435.1:p.Val3895Ile
XM_017010947.2:c.11614G>A	XP_016866436.1:p.Val3872Ile
XM_017010948.2:c.11167G>A	XP_016866437.1:p.Val3723Ile
XM_017010949.2:c.10018G>A	XP_016866438.1:p.Val3340Ile
NM_138694.4:c.11878G>A MANE Select	NP_619639.3:p.Val3960Ile