Canonical Allele Identifier: CA450613198

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659641-G-A
• MyVariant Identifiers: chr6:g.51524439G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659641G>A , CM000668.2:g.51659641G>A	GRCh38
NC_000006.11:g.51524439G>A , CM000668.1:g.51524439G>A	GRCh37
NC_000006.10:g.51632398G>A	NCBI36
NG_008753.1:g.432985C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10485C>T MANE Select	ENSP00000360158.3:p.Leu3495=
ENST00000371117.7:c.10485C>T	ENSP00000360158.3:p.Leu3495=
NM_138694.3:c.10485C>T	NP_619639.3:p.Leu3495=
XM_011514679.1:c.10485C>T	XP_011512981.1:p.Leu3495=
XM_011514680.1:c.10485C>T	XP_011512982.1:p.Leu3495=
XM_011514681.1:c.10356C>T	XP_011512983.1:p.Leu3452=
XM_011514682.1:c.10347C>T	XP_011512984.1:p.Leu3449=
XM_011514683.1:c.9843C>T	XP_011512985.1:p.Leu3281=
XM_011514684.1:c.9774C>T	XP_011512986.1:p.Leu3258=
XM_011514687.1:c.10157-10421C>T	XP_011512989.1:n.10157-10421C>T
XM_011514690.1:c.4560C>T	XP_011512992.1:p.Leu1520=
XM_011514691.1:c.4560C>T	XP_011512993.1:p.Leu1520=
XR_926870.1:n.535+7268G>A
XR_926871.1:n.403+7268G>A
XR_926872.1:n.535+7268G>A
XM_011514680.3:c.10485C>T	XP_011512982.1:p.Leu3495=
XM_011514682.3:c.10347C>T	XP_011512984.1:p.Leu3449=
XM_011514683.3:c.9843C>T	XP_011512985.1:p.Leu3281=
XM_011514684.3:c.9774C>T	XP_011512986.1:p.Leu3258=
XM_011514690.3:c.4560C>T	XP_011512992.1:p.Leu1520=
XM_011514691.3:c.4560C>T	XP_011512993.1:p.Leu1520=
XM_017010944.2:c.10485C>T	XP_016866433.1:p.Leu3495=
XM_017010945.2:c.10410C>T	XP_016866434.1:p.Leu3470=
XM_017010946.2:c.10290C>T	XP_016866435.1:p.Leu3430=
XM_017010947.2:c.10221C>T	XP_016866436.1:p.Leu3407=
XM_017010948.2:c.9774C>T	XP_016866437.1:p.Leu3258=
XM_017010949.2:c.8625C>T	XP_016866438.1:p.Leu2875=
XR_001743469.1:n.10761C>T
XR_001744157.1:n.3145+7268G>A
XR_926870.2:n.3145+7268G>A
XR_926871.2:n.3013+7268G>A
XR_926872.2:n.3145+7268G>A
NM_138694.4:c.10485C>T MANE Select	NP_619639.3:p.Leu3495=