Canonical Allele Identifier: CA364437402

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659925-G-T
• MyVariant Identifiers: chr6:g.51524723G>T (hg19) ; chr6:g.51659925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659925G>T , CM000668.2:g.51659925G>T	GRCh38
NC_000006.11:g.51524723G>T , CM000668.1:g.51524723G>T	GRCh37
NC_000006.10:g.51632682G>T	NCBI36
NG_008753.1:g.432701C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10201C>A MANE Select	ENSP00000360158.3:p.Gln3401Lys
ENST00000371117.7:c.10201C>A	ENSP00000360158.3:p.Gln3401Lys
NM_138694.3:c.10201C>A	NP_619639.3:p.Gln3401Lys
XM_011514679.1:c.10201C>A	XP_011512981.1:p.Gln3401Lys
XM_011514680.1:c.10201C>A	XP_011512982.1:p.Gln3401Lys
XM_011514681.1:c.10072C>A	XP_011512983.1:p.Gln3358Lys
XM_011514682.1:c.10063C>A	XP_011512984.1:p.Gln3355Lys
XM_011514683.1:c.9559C>A	XP_011512985.1:p.Gln3187Lys
XM_011514684.1:c.9490C>A	XP_011512986.1:p.Gln3164Lys
XM_011514687.1:c.10157-10705C>A	XP_011512989.1:n.10157-10705C>A
XM_011514690.1:c.4276C>A	XP_011512992.1:p.Gln1426Lys
XM_011514691.1:c.4276C>A	XP_011512993.1:p.Gln1426Lys
XR_926870.1:n.535+7552G>T
XR_926871.1:n.403+7552G>T
XR_926872.1:n.535+7552G>T
XM_011514680.3:c.10201C>A	XP_011512982.1:p.Gln3401Lys
XM_011514682.3:c.10063C>A	XP_011512984.1:p.Gln3355Lys
XM_011514683.3:c.9559C>A	XP_011512985.1:p.Gln3187Lys
XM_011514684.3:c.9490C>A	XP_011512986.1:p.Gln3164Lys
XM_011514690.3:c.4276C>A	XP_011512992.1:p.Gln1426Lys
XM_011514691.3:c.4276C>A	XP_011512993.1:p.Gln1426Lys
XM_017010944.2:c.10201C>A	XP_016866433.1:p.Gln3401Lys
XM_017010945.2:c.10126C>A	XP_016866434.1:p.Gln3376Lys
XM_017010946.2:c.10006C>A	XP_016866435.1:p.Gln3336Lys
XM_017010947.2:c.9937C>A	XP_016866436.1:p.Gln3313Lys
XM_017010948.2:c.9490C>A	XP_016866437.1:p.Gln3164Lys
XM_017010949.2:c.8341C>A	XP_016866438.1:p.Gln2781Lys
XR_001743469.1:n.10477C>A
XR_001744157.1:n.3145+7552G>T
XR_926870.2:n.3145+7552G>T
XR_926871.2:n.3013+7552G>T
XR_926872.2:n.3145+7552G>T
NM_138694.4:c.10201C>A MANE Select	NP_619639.3:p.Gln3401Lys