Canonical Allele Identifier: CA364418957

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491898C>A (hg19) ; chr6:g.51627100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627100C>A , CM000668.2:g.51627100C>A	GRCh38
NC_000006.11:g.51491898C>A , CM000668.1:g.51491898C>A	GRCh37
NC_000006.10:g.51599857C>A	NCBI36
NG_008753.1:g.465526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11682G>T MANE Select	ENSP00000360158.3:p.Glu3894Asp
ENST00000371117.7:c.11682G>T	ENSP00000360158.3:p.Glu3894Asp
NM_138694.3:c.11682G>T	NP_619639.3:p.Glu3894Asp
XM_011514679.1:c.11682G>T	XP_011512981.1:p.Glu3894Asp
XM_011514680.1:c.11682G>T	XP_011512982.1:p.Glu3894Asp
XM_011514681.1:c.11553G>T	XP_011512983.1:p.Glu3851Asp
XM_011514682.1:c.11544G>T	XP_011512984.1:p.Glu3848Asp
XM_011514683.1:c.11040G>T	XP_011512985.1:p.Glu3680Asp
XM_011514684.1:c.10971G>T	XP_011512986.1:p.Glu3657Asp
XM_011514690.1:c.5757G>T	XP_011512992.1:p.Glu1919Asp
XM_011514691.1:c.5757G>T	XP_011512993.1:p.Glu1919Asp
XM_011514680.3:c.11682G>T	XP_011512982.1:p.Glu3894Asp
XM_011514682.3:c.11544G>T	XP_011512984.1:p.Glu3848Asp
XM_011514683.3:c.11040G>T	XP_011512985.1:p.Glu3680Asp
XM_011514684.3:c.10971G>T	XP_011512986.1:p.Glu3657Asp
XM_011514690.3:c.5757G>T	XP_011512992.1:p.Glu1919Asp
XM_011514691.3:c.5757G>T	XP_011512993.1:p.Glu1919Asp
XM_017010944.2:c.11682G>T	XP_016866433.1:p.Glu3894Asp
XM_017010945.2:c.11607G>T	XP_016866434.1:p.Glu3869Asp
XM_017010946.2:c.11487G>T	XP_016866435.1:p.Glu3829Asp
XM_017010947.2:c.11418G>T	XP_016866436.1:p.Glu3806Asp
XM_017010948.2:c.10971G>T	XP_016866437.1:p.Glu3657Asp
XM_017010949.2:c.9822G>T	XP_016866438.1:p.Glu3274Asp
NM_138694.4:c.11682G>T MANE Select	NP_619639.3:p.Glu3894Asp