Canonical Allele Identifier: CA3851065

Gene: PKHD1

Linked Data

• dbSNP Id: rs754598286
• ExAC: 6:51524432 C / G
• gnomAD v2: 6-51524432-C-G
• gnomAD v4: 6-51659634-C-G
• MyVariant Identifiers: chr6:g.51524432C>G (hg19) ; chr6:g.51659634C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659634C>G , CM000668.2:g.51659634C>G	GRCh38
NC_000006.11:g.51524432C>G , CM000668.1:g.51524432C>G	GRCh37
NC_000006.10:g.51632391C>G	NCBI36
NG_008753.1:g.432992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10492G>C MANE Select	ENSP00000360158.3:p.Val3498Leu
ENST00000371117.7:c.10492G>C	ENSP00000360158.3:p.Val3498Leu
NM_138694.3:c.10492G>C	NP_619639.3:p.Val3498Leu
XM_011514679.1:c.10492G>C	XP_011512981.1:p.Val3498Leu
XM_011514680.1:c.10492G>C	XP_011512982.1:p.Val3498Leu
XM_011514681.1:c.10363G>C	XP_011512983.1:p.Val3455Leu
XM_011514682.1:c.10354G>C	XP_011512984.1:p.Val3452Leu
XM_011514683.1:c.9850G>C	XP_011512985.1:p.Val3284Leu
XM_011514684.1:c.9781G>C	XP_011512986.1:p.Val3261Leu
XM_011514687.1:c.10157-10414G>C	XP_011512989.1:n.10157-10414G>C
XM_011514690.1:c.4567G>C	XP_011512992.1:p.Val1523Leu
XM_011514691.1:c.4567G>C	XP_011512993.1:p.Val1523Leu
XR_926870.1:n.535+7261C>G
XR_926871.1:n.403+7261C>G
XR_926872.1:n.535+7261C>G
XM_011514680.3:c.10492G>C	XP_011512982.1:p.Val3498Leu
XM_011514682.3:c.10354G>C	XP_011512984.1:p.Val3452Leu
XM_011514683.3:c.9850G>C	XP_011512985.1:p.Val3284Leu
XM_011514684.3:c.9781G>C	XP_011512986.1:p.Val3261Leu
XM_011514690.3:c.4567G>C	XP_011512992.1:p.Val1523Leu
XM_011514691.3:c.4567G>C	XP_011512993.1:p.Val1523Leu
XM_017010944.2:c.10492G>C	XP_016866433.1:p.Val3498Leu
XM_017010945.2:c.10417G>C	XP_016866434.1:p.Val3473Leu
XM_017010946.2:c.10297G>C	XP_016866435.1:p.Val3433Leu
XM_017010947.2:c.10228G>C	XP_016866436.1:p.Val3410Leu
XM_017010948.2:c.9781G>C	XP_016866437.1:p.Val3261Leu
XM_017010949.2:c.8632G>C	XP_016866438.1:p.Val2878Leu
XR_001743469.1:n.10768G>C
XR_001744157.1:n.3145+7261C>G
XR_926870.2:n.3145+7261C>G
XR_926871.2:n.3013+7261C>G
XR_926872.2:n.3145+7261C>G
NM_138694.4:c.10492G>C MANE Select	NP_619639.3:p.Val3498Leu