Canonical Allele Identifier: CA450412710

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51753328-G-A
• MyVariant Identifiers: chr6:g.51618126G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753328G>A , CM000668.2:g.51753328G>A	GRCh38
NC_000006.11:g.51618126G>A , CM000668.1:g.51618126G>A	GRCh37
NC_000006.10:g.51726085G>A	NCBI36
NG_008753.1:g.339298C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8823C>T MANE Select	ENSP00000360158.3:p.Gly2941=
ENST00000340994.4:c.8823C>T	ENSP00000341097.4:p.Gly2941=
ENST00000371117.7:c.8823C>T	ENSP00000360158.3:p.Gly2941=
NM_138694.3:c.8823C>T	NP_619639.3:p.Gly2941=
NM_170724.2:c.8823C>T	NP_733842.2:p.Gly2941=
XM_011514679.1:c.8823C>T	XP_011512981.1:p.Gly2941=
XM_011514680.1:c.8823C>T	XP_011512982.1:p.Gly2941=
XM_011514681.1:c.8694C>T	XP_011512983.1:p.Gly2898=
XM_011514682.1:c.8685C>T	XP_011512984.1:p.Gly2895=
XM_011514683.1:c.8181C>T	XP_011512985.1:p.Gly2727=
XM_011514684.1:c.8112C>T	XP_011512986.1:p.Gly2704=
XM_011514685.1:c.8823C>T	XP_011512987.1:p.Gly2941=
XM_011514686.1:c.8823C>T	XP_011512988.1:p.Gly2941=
XM_011514687.1:c.8823C>T	XP_011512989.1:p.Gly2941=
XM_011514688.1:c.8823C>T	XP_011512990.1:p.Gly2941=
XM_011514690.1:c.2898C>T	XP_011512992.1:p.Gly966=
XM_011514691.1:c.2898C>T	XP_011512993.1:p.Gly966=
XM_011514680.3:c.8823C>T	XP_011512982.1:p.Gly2941=
XM_011514682.3:c.8685C>T	XP_011512984.1:p.Gly2895=
XM_011514683.3:c.8181C>T	XP_011512985.1:p.Gly2727=
XM_011514684.3:c.8112C>T	XP_011512986.1:p.Gly2704=
XM_011514686.2:c.8823C>T	XP_011512988.1:p.Gly2941=
XM_011514688.2:c.8823C>T	XP_011512990.1:p.Gly2941=
XM_011514690.3:c.2898C>T	XP_011512992.1:p.Gly966=
XM_011514691.3:c.2898C>T	XP_011512993.1:p.Gly966=
XM_017010944.2:c.8823C>T	XP_016866433.1:p.Gly2941=
XM_017010945.2:c.8748C>T	XP_016866434.1:p.Gly2916=
XM_017010946.2:c.8628C>T	XP_016866435.1:p.Gly2876=
XM_017010947.2:c.8559C>T	XP_016866436.1:p.Gly2853=
XM_017010948.2:c.8112C>T	XP_016866437.1:p.Gly2704=
XM_017010949.2:c.6963C>T	XP_016866438.1:p.Gly2321=
XM_017010950.1:c.8823C>T	XP_016866439.1:p.Gly2941=
XM_017010951.1:c.*1427C>T	XP_016866440.1:n.*1427C>T
XR_001743469.1:n.9099C>T
NM_138694.4:c.8823C>T MANE Select	NP_619639.3:p.Gly2941=
NM_170724.3:c.8823C>T	NP_733842.2:p.Gly2941=