Canonical Allele Identifier: CA364437472

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524734T>A (hg19) ; chr6:g.51659936T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659936T>A , CM000668.2:g.51659936T>A	GRCh38
NC_000006.11:g.51524734T>A , CM000668.1:g.51524734T>A	GRCh37
NC_000006.10:g.51632693T>A	NCBI36
NG_008753.1:g.432690A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10190A>T MANE Select	ENSP00000360158.3:p.Gln3397Leu
ENST00000371117.7:c.10190A>T	ENSP00000360158.3:p.Gln3397Leu
NM_138694.3:c.10190A>T	NP_619639.3:p.Gln3397Leu
XM_011514679.1:c.10190A>T	XP_011512981.1:p.Gln3397Leu
XM_011514680.1:c.10190A>T	XP_011512982.1:p.Gln3397Leu
XM_011514681.1:c.10061A>T	XP_011512983.1:p.Gln3354Leu
XM_011514682.1:c.10052A>T	XP_011512984.1:p.Gln3351Leu
XM_011514683.1:c.9548A>T	XP_011512985.1:p.Gln3183Leu
XM_011514684.1:c.9479A>T	XP_011512986.1:p.Gln3160Leu
XM_011514687.1:c.10157-10716A>T	XP_011512989.1:n.10157-10716A>T
XM_011514690.1:c.4265A>T	XP_011512992.1:p.Gln1422Leu
XM_011514691.1:c.4265A>T	XP_011512993.1:p.Gln1422Leu
XR_926870.1:n.535+7563T>A
XR_926871.1:n.403+7563T>A
XR_926872.1:n.535+7563T>A
XM_011514680.3:c.10190A>T	XP_011512982.1:p.Gln3397Leu
XM_011514682.3:c.10052A>T	XP_011512984.1:p.Gln3351Leu
XM_011514683.3:c.9548A>T	XP_011512985.1:p.Gln3183Leu
XM_011514684.3:c.9479A>T	XP_011512986.1:p.Gln3160Leu
XM_011514690.3:c.4265A>T	XP_011512992.1:p.Gln1422Leu
XM_011514691.3:c.4265A>T	XP_011512993.1:p.Gln1422Leu
XM_017010944.2:c.10190A>T	XP_016866433.1:p.Gln3397Leu
XM_017010945.2:c.10115A>T	XP_016866434.1:p.Gln3372Leu
XM_017010946.2:c.9995A>T	XP_016866435.1:p.Gln3332Leu
XM_017010947.2:c.9926A>T	XP_016866436.1:p.Gln3309Leu
XM_017010948.2:c.9479A>T	XP_016866437.1:p.Gln3160Leu
XM_017010949.2:c.8330A>T	XP_016866438.1:p.Gln2777Leu
XR_001743469.1:n.10466A>T
XR_001744157.1:n.3145+7563T>A
XR_926870.2:n.3145+7563T>A
XR_926871.2:n.3013+7563T>A
XR_926872.2:n.3145+7563T>A
NM_138694.4:c.10190A>T MANE Select	NP_619639.3:p.Gln3397Leu