Canonical Allele Identifier: CA3850713

Gene: PKHD1

Linked Data

• dbSNP Id: rs527661272
• ExAC: 6:51491825 G / T
• gnomAD v2: 6-51491825-G-T
• gnomAD v3: 6-51627027-G-T
• gnomAD v4: 6-51627027-G-T
• MyVariant Identifiers: chr6:g.51491825G>T (hg19) ; chr6:g.51627027G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627027G>T , CM000668.2:g.51627027G>T	GRCh38
NC_000006.11:g.51491825G>T , CM000668.1:g.51491825G>T	GRCh37
NC_000006.10:g.51599784G>T	NCBI36
NG_008753.1:g.465599C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11755C>A MANE Select	ENSP00000360158.3:p.Pro3919Thr
ENST00000371117.7:c.11755C>A	ENSP00000360158.3:p.Pro3919Thr
NM_138694.3:c.11755C>A	NP_619639.3:p.Pro3919Thr
XM_011514679.1:c.11755C>A	XP_011512981.1:p.Pro3919Thr
XM_011514680.1:c.11755C>A	XP_011512982.1:p.Pro3919Thr
XM_011514681.1:c.11626C>A	XP_011512983.1:p.Pro3876Thr
XM_011514682.1:c.11617C>A	XP_011512984.1:p.Pro3873Thr
XM_011514683.1:c.11113C>A	XP_011512985.1:p.Pro3705Thr
XM_011514684.1:c.11044C>A	XP_011512986.1:p.Pro3682Thr
XM_011514690.1:c.5830C>A	XP_011512992.1:p.Pro1944Thr
XM_011514691.1:c.5830C>A	XP_011512993.1:p.Pro1944Thr
XM_011514680.3:c.11755C>A	XP_011512982.1:p.Pro3919Thr
XM_011514682.3:c.11617C>A	XP_011512984.1:p.Pro3873Thr
XM_011514683.3:c.11113C>A	XP_011512985.1:p.Pro3705Thr
XM_011514684.3:c.11044C>A	XP_011512986.1:p.Pro3682Thr
XM_011514690.3:c.5830C>A	XP_011512992.1:p.Pro1944Thr
XM_011514691.3:c.5830C>A	XP_011512993.1:p.Pro1944Thr
XM_017010944.2:c.11755C>A	XP_016866433.1:p.Pro3919Thr
XM_017010945.2:c.11680C>A	XP_016866434.1:p.Pro3894Thr
XM_017010946.2:c.11560C>A	XP_016866435.1:p.Pro3854Thr
XM_017010947.2:c.11491C>A	XP_016866436.1:p.Pro3831Thr
XM_017010948.2:c.11044C>A	XP_016866437.1:p.Pro3682Thr
XM_017010949.2:c.9895C>A	XP_016866438.1:p.Pro3299Thr
NM_138694.4:c.11755C>A MANE Select	NP_619639.3:p.Pro3919Thr