Canonical Allele Identifier: CA364436426

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1806325
• ClinVar RCV Id: RCV002470609 ; RCV003479430
• dbSNP Id: rs778711731
• gnomAD v4: 6-51659811-C-A
• MyVariant Identifiers: chr6:g.51524609C>A (hg19) ; chr6:g.51659811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659811C>A , CM000668.2:g.51659811C>A	GRCh38
NC_000006.11:g.51524609C>A , CM000668.1:g.51524609C>A	GRCh37
NC_000006.10:g.51632568C>A	NCBI36
NG_008753.1:g.432815G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10315G>T MANE Select	ENSP00000360158.3:p.Asp3439Tyr
ENST00000371117.7:c.10315G>T	ENSP00000360158.3:p.Asp3439Tyr
NM_138694.3:c.10315G>T	NP_619639.3:p.Asp3439Tyr
XM_011514679.1:c.10315G>T	XP_011512981.1:p.Asp3439Tyr
XM_011514680.1:c.10315G>T	XP_011512982.1:p.Asp3439Tyr
XM_011514681.1:c.10186G>T	XP_011512983.1:p.Asp3396Tyr
XM_011514682.1:c.10177G>T	XP_011512984.1:p.Asp3393Tyr
XM_011514683.1:c.9673G>T	XP_011512985.1:p.Asp3225Tyr
XM_011514684.1:c.9604G>T	XP_011512986.1:p.Asp3202Tyr
XM_011514687.1:c.10157-10591G>T	XP_011512989.1:n.10157-10591G>T
XM_011514690.1:c.4390G>T	XP_011512992.1:p.Asp1464Tyr
XM_011514691.1:c.4390G>T	XP_011512993.1:p.Asp1464Tyr
XR_926870.1:n.535+7438C>A
XR_926871.1:n.403+7438C>A
XR_926872.1:n.535+7438C>A
XM_011514680.3:c.10315G>T	XP_011512982.1:p.Asp3439Tyr
XM_011514682.3:c.10177G>T	XP_011512984.1:p.Asp3393Tyr
XM_011514683.3:c.9673G>T	XP_011512985.1:p.Asp3225Tyr
XM_011514684.3:c.9604G>T	XP_011512986.1:p.Asp3202Tyr
XM_011514690.3:c.4390G>T	XP_011512992.1:p.Asp1464Tyr
XM_011514691.3:c.4390G>T	XP_011512993.1:p.Asp1464Tyr
XM_017010944.2:c.10315G>T	XP_016866433.1:p.Asp3439Tyr
XM_017010945.2:c.10240G>T	XP_016866434.1:p.Asp3414Tyr
XM_017010946.2:c.10120G>T	XP_016866435.1:p.Asp3374Tyr
XM_017010947.2:c.10051G>T	XP_016866436.1:p.Asp3351Tyr
XM_017010948.2:c.9604G>T	XP_016866437.1:p.Asp3202Tyr
XM_017010949.2:c.8455G>T	XP_016866438.1:p.Asp2819Tyr
XR_001743469.1:n.10591G>T
XR_001744157.1:n.3145+7438C>A
XR_926870.2:n.3145+7438C>A
XR_926871.2:n.3013+7438C>A
XR_926872.2:n.3145+7438C>A
NM_138694.4:c.10315G>T MANE Select	NP_619639.3:p.Asp3439Tyr