Canonical Allele Identifier: CA364430959

Gene: PKHD1

Linked Data

• dbSNP Id: rs373185996
• gnomAD v4: 6-51659169-T-A
• MyVariant Identifiers: chr6:g.51523967T>A (hg19) ; chr6:g.51659169T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659169T>A , CM000668.2:g.51659169T>A	GRCh38
NC_000006.11:g.51523967T>A , CM000668.1:g.51523967T>A	GRCh37
NC_000006.10:g.51631926T>A	NCBI36
NG_008753.1:g.433457A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10957A>T MANE Select	ENSP00000360158.3:p.Met3653Leu
ENST00000371117.7:c.10957A>T	ENSP00000360158.3:p.Met3653Leu
NM_138694.3:c.10957A>T	NP_619639.3:p.Met3653Leu
XM_011514679.1:c.10957A>T	XP_011512981.1:p.Met3653Leu
XM_011514680.1:c.10957A>T	XP_011512982.1:p.Met3653Leu
XM_011514681.1:c.10828A>T	XP_011512983.1:p.Met3610Leu
XM_011514682.1:c.10819A>T	XP_011512984.1:p.Met3607Leu
XM_011514683.1:c.10315A>T	XP_011512985.1:p.Met3439Leu
XM_011514684.1:c.10246A>T	XP_011512986.1:p.Met3416Leu
XM_011514687.1:c.10157-9949A>T	XP_011512989.1:n.10157-9949A>T
XM_011514690.1:c.5032A>T	XP_011512992.1:p.Met1678Leu
XM_011514691.1:c.5032A>T	XP_011512993.1:p.Met1678Leu
XR_926870.1:n.535+6796T>A
XR_926871.1:n.403+6796T>A
XR_926872.1:n.535+6796T>A
XM_011514680.3:c.10957A>T	XP_011512982.1:p.Met3653Leu
XM_011514682.3:c.10819A>T	XP_011512984.1:p.Met3607Leu
XM_011514683.3:c.10315A>T	XP_011512985.1:p.Met3439Leu
XM_011514684.3:c.10246A>T	XP_011512986.1:p.Met3416Leu
XM_011514690.3:c.5032A>T	XP_011512992.1:p.Met1678Leu
XM_011514691.3:c.5032A>T	XP_011512993.1:p.Met1678Leu
XM_017010944.2:c.10957A>T	XP_016866433.1:p.Met3653Leu
XM_017010945.2:c.10882A>T	XP_016866434.1:p.Met3628Leu
XM_017010946.2:c.10762A>T	XP_016866435.1:p.Met3588Leu
XM_017010947.2:c.10693A>T	XP_016866436.1:p.Met3565Leu
XM_017010948.2:c.10246A>T	XP_016866437.1:p.Met3416Leu
XM_017010949.2:c.9097A>T	XP_016866438.1:p.Met3033Leu
XR_001743469.1:n.11233A>T
XR_001744157.1:n.3145+6796T>A
XR_926870.2:n.3145+6796T>A
XR_926871.2:n.3013+6796T>A
XR_926872.2:n.3145+6796T>A
NM_138694.4:c.10957A>T MANE Select	NP_619639.3:p.Met3653Leu