Canonical Allele Identifier: CA364417468

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619485G>A , CM000668.2:g.51619485G>A	GRCh38
NC_000006.11:g.51484283G>A , CM000668.1:g.51484283G>A	GRCh37
NC_000006.10:g.51592242G>A	NCBI36
NG_008753.1:g.473141C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11821C>T MANE Select	NP_619639.3:p.Gln3941Ter
ENST00000371117.8:c.11821C>T MANE Select	ENSP00000360158.3:p.Gln3941Ter
NM_138694.3:c.11821C>T	NP_619639.3:p.Gln3941Ter
ENST00000371117.7:c.11821C>T	ENSP00000360158.3:p.Gln3941Ter
XM_011514679.1:c.11821C>T	XP_011512981.1:p.Gln3941Ter
XM_011514680.1:c.11821C>T	XP_011512982.1:p.Gln3941Ter
XM_011514680.3:c.11821C>T	XP_011512982.1:p.Gln3941Ter
XM_011514681.1:c.11692C>T	XP_011512983.1:p.Gln3898Ter
XM_011514682.1:c.11683C>T	XP_011512984.1:p.Gln3895Ter
XM_011514682.3:c.11683C>T	XP_011512984.1:p.Gln3895Ter
XM_011514683.1:c.11179C>T	XP_011512985.1:p.Gln3727Ter
XM_011514683.3:c.11179C>T	XP_011512985.1:p.Gln3727Ter
XM_011514684.1:c.11110C>T	XP_011512986.1:p.Gln3704Ter
XM_011514684.3:c.11110C>T	XP_011512986.1:p.Gln3704Ter
XM_011514690.1:c.5896C>T	XP_011512992.1:p.Gln1966Ter
XM_011514690.3:c.5896C>T	XP_011512992.1:p.Gln1966Ter
XM_011514691.1:c.5896C>T	XP_011512993.1:p.Gln1966Ter
XM_011514691.3:c.5896C>T	XP_011512993.1:p.Gln1966Ter
XM_017010944.2:c.11821C>T	XP_016866433.1:p.Gln3941Ter
XM_017010945.2:c.11746C>T	XP_016866434.1:p.Gln3916Ter
XM_017010946.2:c.11626C>T	XP_016866435.1:p.Gln3876Ter
XM_017010947.2:c.11557C>T	XP_016866436.1:p.Gln3853Ter
XM_017010948.2:c.11110C>T	XP_016866437.1:p.Gln3704Ter
XM_017010949.2:c.9961C>T	XP_016866438.1:p.Gln3321Ter