Canonical Allele Identifier: CA364426684

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51753231-A-T
• MyVariant Identifiers: chr6:g.51618029A>T (hg19) ; chr6:g.51753231A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753231A>T , CM000668.2:g.51753231A>T	GRCh38
NC_000006.11:g.51618029A>T , CM000668.1:g.51618029A>T	GRCh37
NC_000006.10:g.51725988A>T	NCBI36
NG_008753.1:g.339395T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8920T>A MANE Select	ENSP00000360158.3:p.Phe2974Ile
ENST00000340994.4:c.8920T>A	ENSP00000341097.4:p.Phe2974Ile
ENST00000371117.7:c.8920T>A	ENSP00000360158.3:p.Phe2974Ile
NM_138694.3:c.8920T>A	NP_619639.3:p.Phe2974Ile
NM_170724.2:c.8920T>A	NP_733842.2:p.Phe2974Ile
XM_011514679.1:c.8920T>A	XP_011512981.1:p.Phe2974Ile
XM_011514680.1:c.8920T>A	XP_011512982.1:p.Phe2974Ile
XM_011514681.1:c.8791T>A	XP_011512983.1:p.Phe2931Ile
XM_011514682.1:c.8782T>A	XP_011512984.1:p.Phe2928Ile
XM_011514683.1:c.8278T>A	XP_011512985.1:p.Phe2760Ile
XM_011514684.1:c.8209T>A	XP_011512986.1:p.Phe2737Ile
XM_011514685.1:c.8920T>A	XP_011512987.1:p.Phe2974Ile
XM_011514686.1:c.8920T>A	XP_011512988.1:p.Phe2974Ile
XM_011514687.1:c.8920T>A	XP_011512989.1:p.Phe2974Ile
XM_011514688.1:c.8920T>A	XP_011512990.1:p.Phe2974Ile
XM_011514690.1:c.2995T>A	XP_011512992.1:p.Phe999Ile
XM_011514691.1:c.2995T>A	XP_011512993.1:p.Phe999Ile
XM_011514680.3:c.8920T>A	XP_011512982.1:p.Phe2974Ile
XM_011514682.3:c.8782T>A	XP_011512984.1:p.Phe2928Ile
XM_011514683.3:c.8278T>A	XP_011512985.1:p.Phe2760Ile
XM_011514684.3:c.8209T>A	XP_011512986.1:p.Phe2737Ile
XM_011514686.2:c.8920T>A	XP_011512988.1:p.Phe2974Ile
XM_011514688.2:c.8920T>A	XP_011512990.1:p.Phe2974Ile
XM_011514690.3:c.2995T>A	XP_011512992.1:p.Phe999Ile
XM_011514691.3:c.2995T>A	XP_011512993.1:p.Phe999Ile
XM_017010944.2:c.8920T>A	XP_016866433.1:p.Phe2974Ile
XM_017010945.2:c.8845T>A	XP_016866434.1:p.Phe2949Ile
XM_017010946.2:c.8725T>A	XP_016866435.1:p.Phe2909Ile
XM_017010947.2:c.8656T>A	XP_016866436.1:p.Phe2886Ile
XM_017010948.2:c.8209T>A	XP_016866437.1:p.Phe2737Ile
XM_017010949.2:c.7060T>A	XP_016866438.1:p.Phe2354Ile
XM_017010950.1:c.8920T>A	XP_016866439.1:p.Phe2974Ile
XR_001743469.1:n.9196T>A
NM_138694.4:c.8920T>A MANE Select	NP_619639.3:p.Phe2974Ile
NM_170724.3:c.8920T>A	NP_733842.2:p.Phe2974Ile