Canonical Allele Identifier: CA364433939

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 553354
• ClinVar RCV Id: RCV000668778
• dbSNP Id: rs1554183437
• MyVariant Identifiers: chr6:g.51524353G>A (hg19) ; chr6:g.51659555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659555G>A , CM000668.2:g.51659555G>A	GRCh38
NC_000006.11:g.51524353G>A , CM000668.1:g.51524353G>A	GRCh37
NC_000006.10:g.51632312G>A	NCBI36
NG_008753.1:g.433071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10571C>T MANE Select	ENSP00000360158.3:p.Ser3524Phe
ENST00000371117.7:c.10571C>T	ENSP00000360158.3:p.Ser3524Phe
NM_138694.3:c.10571C>T	NP_619639.3:p.Ser3524Phe
XM_011514679.1:c.10571C>T	XP_011512981.1:p.Ser3524Phe
XM_011514680.1:c.10571C>T	XP_011512982.1:p.Ser3524Phe
XM_011514681.1:c.10442C>T	XP_011512983.1:p.Ser3481Phe
XM_011514682.1:c.10433C>T	XP_011512984.1:p.Ser3478Phe
XM_011514683.1:c.9929C>T	XP_011512985.1:p.Ser3310Phe
XM_011514684.1:c.9860C>T	XP_011512986.1:p.Ser3287Phe
XM_011514687.1:c.10157-10335C>T	XP_011512989.1:n.10157-10335C>T
XM_011514690.1:c.4646C>T	XP_011512992.1:p.Ser1549Phe
XM_011514691.1:c.4646C>T	XP_011512993.1:p.Ser1549Phe
XR_926870.1:n.535+7182G>A
XR_926871.1:n.403+7182G>A
XR_926872.1:n.535+7182G>A
XM_011514680.3:c.10571C>T	XP_011512982.1:p.Ser3524Phe
XM_011514682.3:c.10433C>T	XP_011512984.1:p.Ser3478Phe
XM_011514683.3:c.9929C>T	XP_011512985.1:p.Ser3310Phe
XM_011514684.3:c.9860C>T	XP_011512986.1:p.Ser3287Phe
XM_011514690.3:c.4646C>T	XP_011512992.1:p.Ser1549Phe
XM_011514691.3:c.4646C>T	XP_011512993.1:p.Ser1549Phe
XM_017010944.2:c.10571C>T	XP_016866433.1:p.Ser3524Phe
XM_017010945.2:c.10496C>T	XP_016866434.1:p.Ser3499Phe
XM_017010946.2:c.10376C>T	XP_016866435.1:p.Ser3459Phe
XM_017010947.2:c.10307C>T	XP_016866436.1:p.Ser3436Phe
XM_017010948.2:c.9860C>T	XP_016866437.1:p.Ser3287Phe
XM_017010949.2:c.8711C>T	XP_016866438.1:p.Ser2904Phe
XR_001743469.1:n.10847C>T
XR_001744157.1:n.3145+7182G>A
XR_926870.2:n.3145+7182G>A
XR_926871.2:n.3013+7182G>A
XR_926872.2:n.3145+7182G>A
NM_138694.4:c.10571C>T MANE Select	NP_619639.3:p.Ser3524Phe