Canonical Allele Identifier: CA364431428

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524033A>T (hg19) ; chr6:g.51659235A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659235A>T , CM000668.2:g.51659235A>T	GRCh38
NC_000006.11:g.51524033A>T , CM000668.1:g.51524033A>T	GRCh37
NC_000006.10:g.51631992A>T	NCBI36
NG_008753.1:g.433391T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10891T>A MANE Select	ENSP00000360158.3:p.Tyr3631Asn
ENST00000371117.7:c.10891T>A	ENSP00000360158.3:p.Tyr3631Asn
NM_138694.3:c.10891T>A	NP_619639.3:p.Tyr3631Asn
XM_011514679.1:c.10891T>A	XP_011512981.1:p.Tyr3631Asn
XM_011514680.1:c.10891T>A	XP_011512982.1:p.Tyr3631Asn
XM_011514681.1:c.10762T>A	XP_011512983.1:p.Tyr3588Asn
XM_011514682.1:c.10753T>A	XP_011512984.1:p.Tyr3585Asn
XM_011514683.1:c.10249T>A	XP_011512985.1:p.Tyr3417Asn
XM_011514684.1:c.10180T>A	XP_011512986.1:p.Tyr3394Asn
XM_011514687.1:c.10157-10015T>A	XP_011512989.1:n.10157-10015T>A
XM_011514690.1:c.4966T>A	XP_011512992.1:p.Tyr1656Asn
XM_011514691.1:c.4966T>A	XP_011512993.1:p.Tyr1656Asn
XR_926870.1:n.535+6862A>T
XR_926871.1:n.403+6862A>T
XR_926872.1:n.535+6862A>T
XM_011514680.3:c.10891T>A	XP_011512982.1:p.Tyr3631Asn
XM_011514682.3:c.10753T>A	XP_011512984.1:p.Tyr3585Asn
XM_011514683.3:c.10249T>A	XP_011512985.1:p.Tyr3417Asn
XM_011514684.3:c.10180T>A	XP_011512986.1:p.Tyr3394Asn
XM_011514690.3:c.4966T>A	XP_011512992.1:p.Tyr1656Asn
XM_011514691.3:c.4966T>A	XP_011512993.1:p.Tyr1656Asn
XM_017010944.2:c.10891T>A	XP_016866433.1:p.Tyr3631Asn
XM_017010945.2:c.10816T>A	XP_016866434.1:p.Tyr3606Asn
XM_017010946.2:c.10696T>A	XP_016866435.1:p.Tyr3566Asn
XM_017010947.2:c.10627T>A	XP_016866436.1:p.Tyr3543Asn
XM_017010948.2:c.10180T>A	XP_016866437.1:p.Tyr3394Asn
XM_017010949.2:c.9031T>A	XP_016866438.1:p.Tyr3011Asn
XR_001743469.1:n.11167T>A
XR_001744157.1:n.3145+6862A>T
XR_926870.2:n.3145+6862A>T
XR_926871.2:n.3013+6862A>T
XR_926872.2:n.3145+6862A>T
NM_138694.4:c.10891T>A MANE Select	NP_619639.3:p.Tyr3631Asn