Canonical Allele Identifier: CA3850886

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51648087G>A , CM000668.2:g.51648087G>A	GRCh38
NC_000006.11:g.51512885G>A , CM000668.1:g.51512885G>A	GRCh37
NC_000006.10:g.51620844G>A	NCBI36
NG_008753.1:g.444539C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11342C>T MANE Select	NP_619639.3:p.Ser3781Leu
ENST00000371117.8:c.11342C>T MANE Select	ENSP00000360158.3:p.Ser3781Leu
NM_138694.3:c.11342C>T	NP_619639.3:p.Ser3781Leu
ENST00000371117.7:c.11342C>T	ENSP00000360158.3:p.Ser3781Leu
XM_011514679.1:c.11342C>T	XP_011512981.1:p.Ser3781Leu
XM_011514680.1:c.11342C>T	XP_011512982.1:p.Ser3781Leu
XM_011514680.3:c.11342C>T	XP_011512982.1:p.Ser3781Leu
XM_011514681.1:c.11213C>T	XP_011512983.1:p.Ser3738Leu
XM_011514682.1:c.11204C>T	XP_011512984.1:p.Ser3735Leu
XM_011514682.3:c.11204C>T	XP_011512984.1:p.Ser3735Leu
XM_011514683.1:c.10700C>T	XP_011512985.1:p.Ser3567Leu
XM_011514683.3:c.10700C>T	XP_011512985.1:p.Ser3567Leu
XM_011514684.1:c.10631C>T	XP_011512986.1:p.Ser3544Leu
XM_011514684.3:c.10631C>T	XP_011512986.1:p.Ser3544Leu
XM_011514690.1:c.5417C>T	XP_011512992.1:p.Ser1806Leu
XM_011514690.3:c.5417C>T	XP_011512992.1:p.Ser1806Leu
XM_011514691.1:c.5417C>T	XP_011512993.1:p.Ser1806Leu
XM_011514691.3:c.5417C>T	XP_011512993.1:p.Ser1806Leu
XM_017010944.2:c.11342C>T	XP_016866433.1:p.Ser3781Leu
XM_017010945.2:c.11267C>T	XP_016866434.1:p.Ser3756Leu
XM_017010946.2:c.11147C>T	XP_016866435.1:p.Ser3716Leu
XM_017010947.2:c.11078C>T	XP_016866436.1:p.Ser3693Leu
XM_017010948.2:c.10631C>T	XP_016866437.1:p.Ser3544Leu
XM_017010949.2:c.9482C>T	XP_016866438.1:p.Ser3161Leu
XR_001743469.1:n.11632C>T