Canonical Allele Identifier: CA364418835

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51627069-T-G
• MyVariant Identifiers: chr6:g.51491867T>G (hg19) ; chr6:g.51627069T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627069T>G , CM000668.2:g.51627069T>G	GRCh38
NC_000006.11:g.51491867T>G , CM000668.1:g.51491867T>G	GRCh37
NC_000006.10:g.51599826T>G	NCBI36
NG_008753.1:g.465557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11713A>C MANE Select	ENSP00000360158.3:p.Ile3905Leu
ENST00000371117.7:c.11713A>C	ENSP00000360158.3:p.Ile3905Leu
NM_138694.3:c.11713A>C	NP_619639.3:p.Ile3905Leu
XM_011514679.1:c.11713A>C	XP_011512981.1:p.Ile3905Leu
XM_011514680.1:c.11713A>C	XP_011512982.1:p.Ile3905Leu
XM_011514681.1:c.11584A>C	XP_011512983.1:p.Ile3862Leu
XM_011514682.1:c.11575A>C	XP_011512984.1:p.Ile3859Leu
XM_011514683.1:c.11071A>C	XP_011512985.1:p.Ile3691Leu
XM_011514684.1:c.11002A>C	XP_011512986.1:p.Ile3668Leu
XM_011514690.1:c.5788A>C	XP_011512992.1:p.Ile1930Leu
XM_011514691.1:c.5788A>C	XP_011512993.1:p.Ile1930Leu
XM_011514680.3:c.11713A>C	XP_011512982.1:p.Ile3905Leu
XM_011514682.3:c.11575A>C	XP_011512984.1:p.Ile3859Leu
XM_011514683.3:c.11071A>C	XP_011512985.1:p.Ile3691Leu
XM_011514684.3:c.11002A>C	XP_011512986.1:p.Ile3668Leu
XM_011514690.3:c.5788A>C	XP_011512992.1:p.Ile1930Leu
XM_011514691.3:c.5788A>C	XP_011512993.1:p.Ile1930Leu
XM_017010944.2:c.11713A>C	XP_016866433.1:p.Ile3905Leu
XM_017010945.2:c.11638A>C	XP_016866434.1:p.Ile3880Leu
XM_017010946.2:c.11518A>C	XP_016866435.1:p.Ile3840Leu
XM_017010947.2:c.11449A>C	XP_016866436.1:p.Ile3817Leu
XM_017010948.2:c.11002A>C	XP_016866437.1:p.Ile3668Leu
XM_017010949.2:c.9853A>C	XP_016866438.1:p.Ile3285Leu
NM_138694.4:c.11713A>C MANE Select	NP_619639.3:p.Ile3905Leu