Canonical Allele Identifier: CA364430219

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2232242
• ClinVar RCV Id: RCV002742065
• MyVariant Identifiers: chr6:g.51523856C>A (hg19) ; chr6:g.51659058C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659058C>A , CM000668.2:g.51659058C>A	GRCh38
NC_000006.11:g.51523856C>A , CM000668.1:g.51523856C>A	GRCh37
NC_000006.10:g.51631815C>A	NCBI36
NG_008753.1:g.433568G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11068G>T MANE Select	ENSP00000360158.3:p.Ala3690Ser
ENST00000371117.7:c.11068G>T	ENSP00000360158.3:p.Ala3690Ser
NM_138694.3:c.11068G>T	NP_619639.3:p.Ala3690Ser
XM_011514679.1:c.11068G>T	XP_011512981.1:p.Ala3690Ser
XM_011514680.1:c.11068G>T	XP_011512982.1:p.Ala3690Ser
XM_011514681.1:c.10939G>T	XP_011512983.1:p.Ala3647Ser
XM_011514682.1:c.10930G>T	XP_011512984.1:p.Ala3644Ser
XM_011514683.1:c.10426G>T	XP_011512985.1:p.Ala3476Ser
XM_011514684.1:c.10357G>T	XP_011512986.1:p.Ala3453Ser
XM_011514687.1:c.10157-9838G>T	XP_011512989.1:n.10157-9838G>T
XM_011514690.1:c.5143G>T	XP_011512992.1:p.Ala1715Ser
XM_011514691.1:c.5143G>T	XP_011512993.1:p.Ala1715Ser
XR_926870.1:n.535+6685C>A
XR_926871.1:n.403+6685C>A
XR_926872.1:n.535+6685C>A
XM_011514680.3:c.11068G>T	XP_011512982.1:p.Ala3690Ser
XM_011514682.3:c.10930G>T	XP_011512984.1:p.Ala3644Ser
XM_011514683.3:c.10426G>T	XP_011512985.1:p.Ala3476Ser
XM_011514684.3:c.10357G>T	XP_011512986.1:p.Ala3453Ser
XM_011514690.3:c.5143G>T	XP_011512992.1:p.Ala1715Ser
XM_011514691.3:c.5143G>T	XP_011512993.1:p.Ala1715Ser
XM_017010944.2:c.11068G>T	XP_016866433.1:p.Ala3690Ser
XM_017010945.2:c.10993G>T	XP_016866434.1:p.Ala3665Ser
XM_017010946.2:c.10873G>T	XP_016866435.1:p.Ala3625Ser
XM_017010947.2:c.10804G>T	XP_016866436.1:p.Ala3602Ser
XM_017010948.2:c.10357G>T	XP_016866437.1:p.Ala3453Ser
XM_017010949.2:c.9208G>T	XP_016866438.1:p.Ala3070Ser
XR_001743469.1:n.11344G>T
XR_001744157.1:n.3145+6685C>A
XR_926870.2:n.3145+6685C>A
XR_926871.2:n.3013+6685C>A
XR_926872.2:n.3145+6685C>A
NM_138694.4:c.11068G>T MANE Select	NP_619639.3:p.Ala3690Ser