Canonical Allele Identifier: CA364421770

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51638903C>A , CM000668.2:g.51638903C>A	GRCh38
NC_000006.11:g.51503701C>A , CM000668.1:g.51503701C>A	GRCh37
NC_000006.10:g.51611660C>A	NCBI36
NG_008753.1:g.453723G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11452G>T MANE Select	NP_619639.3:p.Val3818Phe
ENST00000371117.8:c.11452G>T MANE Select	ENSP00000360158.3:p.Val3818Phe
NM_138694.3:c.11452G>T	NP_619639.3:p.Val3818Phe
ENST00000371117.7:c.11452G>T	ENSP00000360158.3:p.Val3818Phe
XM_011514679.1:c.11452G>T	XP_011512981.1:p.Val3818Phe
XM_011514680.1:c.11452G>T	XP_011512982.1:p.Val3818Phe
XM_011514680.3:c.11452G>T	XP_011512982.1:p.Val3818Phe
XM_011514681.1:c.11323G>T	XP_011512983.1:p.Val3775Phe
XM_011514682.1:c.11314G>T	XP_011512984.1:p.Val3772Phe
XM_011514682.3:c.11314G>T	XP_011512984.1:p.Val3772Phe
XM_011514683.1:c.10810G>T	XP_011512985.1:p.Val3604Phe
XM_011514683.3:c.10810G>T	XP_011512985.1:p.Val3604Phe
XM_011514684.1:c.10741G>T	XP_011512986.1:p.Val3581Phe
XM_011514684.3:c.10741G>T	XP_011512986.1:p.Val3581Phe
XM_011514690.1:c.5527G>T	XP_011512992.1:p.Val1843Phe
XM_011514690.3:c.5527G>T	XP_011512992.1:p.Val1843Phe
XM_011514691.1:c.5527G>T	XP_011512993.1:p.Val1843Phe
XM_011514691.3:c.5527G>T	XP_011512993.1:p.Val1843Phe
XM_017010944.2:c.11452G>T	XP_016866433.1:p.Val3818Phe
XM_017010945.2:c.11377G>T	XP_016866434.1:p.Val3793Phe
XM_017010946.2:c.11257G>T	XP_016866435.1:p.Val3753Phe
XM_017010947.2:c.11188G>T	XP_016866436.1:p.Val3730Phe
XM_017010948.2:c.10741G>T	XP_016866437.1:p.Val3581Phe
XM_017010949.2:c.9592G>T	XP_016866438.1:p.Val3198Phe
XR_001743469.1:n.11742G>T