Canonical Allele Identifier: CA364418294

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491797T>C (hg19) ; chr6:g.51626999T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51626999T>C , CM000668.2:g.51626999T>C	GRCh38
NC_000006.11:g.51491797T>C , CM000668.1:g.51491797T>C	GRCh37
NC_000006.10:g.51599756T>C	NCBI36
NG_008753.1:g.465627A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11783A>G MANE Select	ENSP00000360158.3:p.Glu3928Gly
ENST00000371117.7:c.11783A>G	ENSP00000360158.3:p.Glu3928Gly
NM_138694.3:c.11783A>G	NP_619639.3:p.Glu3928Gly
XM_011514679.1:c.11783A>G	XP_011512981.1:p.Glu3928Gly
XM_011514680.1:c.11783A>G	XP_011512982.1:p.Glu3928Gly
XM_011514681.1:c.11654A>G	XP_011512983.1:p.Glu3885Gly
XM_011514682.1:c.11645A>G	XP_011512984.1:p.Glu3882Gly
XM_011514683.1:c.11141A>G	XP_011512985.1:p.Glu3714Gly
XM_011514684.1:c.11072A>G	XP_011512986.1:p.Glu3691Gly
XM_011514690.1:c.5858A>G	XP_011512992.1:p.Glu1953Gly
XM_011514691.1:c.5858A>G	XP_011512993.1:p.Glu1953Gly
XM_011514680.3:c.11783A>G	XP_011512982.1:p.Glu3928Gly
XM_011514682.3:c.11645A>G	XP_011512984.1:p.Glu3882Gly
XM_011514683.3:c.11141A>G	XP_011512985.1:p.Glu3714Gly
XM_011514684.3:c.11072A>G	XP_011512986.1:p.Glu3691Gly
XM_011514690.3:c.5858A>G	XP_011512992.1:p.Glu1953Gly
XM_011514691.3:c.5858A>G	XP_011512993.1:p.Glu1953Gly
XM_017010944.2:c.11783A>G	XP_016866433.1:p.Glu3928Gly
XM_017010945.2:c.11708A>G	XP_016866434.1:p.Glu3903Gly
XM_017010946.2:c.11588A>G	XP_016866435.1:p.Glu3863Gly
XM_017010947.2:c.11519A>G	XP_016866436.1:p.Glu3840Gly
XM_017010948.2:c.11072A>G	XP_016866437.1:p.Glu3691Gly
XM_017010949.2:c.9923A>G	XP_016866438.1:p.Glu3308Gly
NM_138694.4:c.11783A>G MANE Select	NP_619639.3:p.Glu3928Gly