Canonical Allele Identifier: CA364431576

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524068T>A (hg19) ; chr6:g.51659270T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659270T>A , CM000668.2:g.51659270T>A	GRCh38
NC_000006.11:g.51524068T>A , CM000668.1:g.51524068T>A	GRCh37
NC_000006.10:g.51632027T>A	NCBI36
NG_008753.1:g.433356A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10856A>T MANE Select	ENSP00000360158.3:p.Lys3619Met
ENST00000371117.7:c.10856A>T	ENSP00000360158.3:p.Lys3619Met
NM_138694.3:c.10856A>T	NP_619639.3:p.Lys3619Met
XM_011514679.1:c.10856A>T	XP_011512981.1:p.Lys3619Met
XM_011514680.1:c.10856A>T	XP_011512982.1:p.Lys3619Met
XM_011514681.1:c.10727A>T	XP_011512983.1:p.Lys3576Met
XM_011514682.1:c.10718A>T	XP_011512984.1:p.Lys3573Met
XM_011514683.1:c.10214A>T	XP_011512985.1:p.Lys3405Met
XM_011514684.1:c.10145A>T	XP_011512986.1:p.Lys3382Met
XM_011514687.1:c.10157-10050A>T	XP_011512989.1:n.10157-10050A>T
XM_011514690.1:c.4931A>T	XP_011512992.1:p.Lys1644Met
XM_011514691.1:c.4931A>T	XP_011512993.1:p.Lys1644Met
XR_926870.1:n.535+6897T>A
XR_926871.1:n.403+6897T>A
XR_926872.1:n.535+6897T>A
XM_011514680.3:c.10856A>T	XP_011512982.1:p.Lys3619Met
XM_011514682.3:c.10718A>T	XP_011512984.1:p.Lys3573Met
XM_011514683.3:c.10214A>T	XP_011512985.1:p.Lys3405Met
XM_011514684.3:c.10145A>T	XP_011512986.1:p.Lys3382Met
XM_011514690.3:c.4931A>T	XP_011512992.1:p.Lys1644Met
XM_011514691.3:c.4931A>T	XP_011512993.1:p.Lys1644Met
XM_017010944.2:c.10856A>T	XP_016866433.1:p.Lys3619Met
XM_017010945.2:c.10781A>T	XP_016866434.1:p.Lys3594Met
XM_017010946.2:c.10661A>T	XP_016866435.1:p.Lys3554Met
XM_017010947.2:c.10592A>T	XP_016866436.1:p.Lys3531Met
XM_017010948.2:c.10145A>T	XP_016866437.1:p.Lys3382Met
XM_017010949.2:c.8996A>T	XP_016866438.1:p.Lys2999Met
XR_001743469.1:n.11132A>T
XR_001744157.1:n.3145+6897T>A
XR_926870.2:n.3145+6897T>A
XR_926871.2:n.3013+6897T>A
XR_926872.2:n.3145+6897T>A
NM_138694.4:c.10856A>T MANE Select	NP_619639.3:p.Lys3619Met