Canonical Allele Identifier: CA364430798

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523944T>A (hg19) ; chr6:g.51659146T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659146T>A , CM000668.2:g.51659146T>A	GRCh38
NC_000006.11:g.51523944T>A , CM000668.1:g.51523944T>A	GRCh37
NC_000006.10:g.51631903T>A	NCBI36
NG_008753.1:g.433480A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10980A>T MANE Select	ENSP00000360158.3:p.Lys3660Asn
ENST00000371117.7:c.10980A>T	ENSP00000360158.3:p.Lys3660Asn
NM_138694.3:c.10980A>T	NP_619639.3:p.Lys3660Asn
XM_011514679.1:c.10980A>T	XP_011512981.1:p.Lys3660Asn
XM_011514680.1:c.10980A>T	XP_011512982.1:p.Lys3660Asn
XM_011514681.1:c.10851A>T	XP_011512983.1:p.Lys3617Asn
XM_011514682.1:c.10842A>T	XP_011512984.1:p.Lys3614Asn
XM_011514683.1:c.10338A>T	XP_011512985.1:p.Lys3446Asn
XM_011514684.1:c.10269A>T	XP_011512986.1:p.Lys3423Asn
XM_011514687.1:c.10157-9926A>T	XP_011512989.1:n.10157-9926A>T
XM_011514690.1:c.5055A>T	XP_011512992.1:p.Lys1685Asn
XM_011514691.1:c.5055A>T	XP_011512993.1:p.Lys1685Asn
XR_926870.1:n.535+6773T>A
XR_926871.1:n.403+6773T>A
XR_926872.1:n.535+6773T>A
XM_011514680.3:c.10980A>T	XP_011512982.1:p.Lys3660Asn
XM_011514682.3:c.10842A>T	XP_011512984.1:p.Lys3614Asn
XM_011514683.3:c.10338A>T	XP_011512985.1:p.Lys3446Asn
XM_011514684.3:c.10269A>T	XP_011512986.1:p.Lys3423Asn
XM_011514690.3:c.5055A>T	XP_011512992.1:p.Lys1685Asn
XM_011514691.3:c.5055A>T	XP_011512993.1:p.Lys1685Asn
XM_017010944.2:c.10980A>T	XP_016866433.1:p.Lys3660Asn
XM_017010945.2:c.10905A>T	XP_016866434.1:p.Lys3635Asn
XM_017010946.2:c.10785A>T	XP_016866435.1:p.Lys3595Asn
XM_017010947.2:c.10716A>T	XP_016866436.1:p.Lys3572Asn
XM_017010948.2:c.10269A>T	XP_016866437.1:p.Lys3423Asn
XM_017010949.2:c.9120A>T	XP_016866438.1:p.Lys3040Asn
XR_001743469.1:n.11256A>T
XR_001744157.1:n.3145+6773T>A
XR_926870.2:n.3145+6773T>A
XR_926871.2:n.3013+6773T>A
XR_926872.2:n.3145+6773T>A
NM_138694.4:c.10980A>T MANE Select	NP_619639.3:p.Lys3660Asn