Canonical Allele Identifier: CA364430489

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51523900G>T (hg19) ; chr6:g.51659102G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659102G>T , CM000668.2:g.51659102G>T	GRCh38
NC_000006.11:g.51523900G>T , CM000668.1:g.51523900G>T	GRCh37
NC_000006.10:g.51631859G>T	NCBI36
NG_008753.1:g.433524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11024C>A MANE Select	ENSP00000360158.3:p.Thr3675Asn
ENST00000371117.7:c.11024C>A	ENSP00000360158.3:p.Thr3675Asn
NM_138694.3:c.11024C>A	NP_619639.3:p.Thr3675Asn
XM_011514679.1:c.11024C>A	XP_011512981.1:p.Thr3675Asn
XM_011514680.1:c.11024C>A	XP_011512982.1:p.Thr3675Asn
XM_011514681.1:c.10895C>A	XP_011512983.1:p.Thr3632Asn
XM_011514682.1:c.10886C>A	XP_011512984.1:p.Thr3629Asn
XM_011514683.1:c.10382C>A	XP_011512985.1:p.Thr3461Asn
XM_011514684.1:c.10313C>A	XP_011512986.1:p.Thr3438Asn
XM_011514687.1:c.10157-9882C>A	XP_011512989.1:n.10157-9882C>A
XM_011514690.1:c.5099C>A	XP_011512992.1:p.Thr1700Asn
XM_011514691.1:c.5099C>A	XP_011512993.1:p.Thr1700Asn
XR_926870.1:n.535+6729G>T
XR_926871.1:n.403+6729G>T
XR_926872.1:n.535+6729G>T
XM_011514680.3:c.11024C>A	XP_011512982.1:p.Thr3675Asn
XM_011514682.3:c.10886C>A	XP_011512984.1:p.Thr3629Asn
XM_011514683.3:c.10382C>A	XP_011512985.1:p.Thr3461Asn
XM_011514684.3:c.10313C>A	XP_011512986.1:p.Thr3438Asn
XM_011514690.3:c.5099C>A	XP_011512992.1:p.Thr1700Asn
XM_011514691.3:c.5099C>A	XP_011512993.1:p.Thr1700Asn
XM_017010944.2:c.11024C>A	XP_016866433.1:p.Thr3675Asn
XM_017010945.2:c.10949C>A	XP_016866434.1:p.Thr3650Asn
XM_017010946.2:c.10829C>A	XP_016866435.1:p.Thr3610Asn
XM_017010947.2:c.10760C>A	XP_016866436.1:p.Thr3587Asn
XM_017010948.2:c.10313C>A	XP_016866437.1:p.Thr3438Asn
XM_017010949.2:c.9164C>A	XP_016866438.1:p.Thr3055Asn
XR_001743469.1:n.11300C>A
XR_001744157.1:n.3145+6729G>T
XR_926870.2:n.3145+6729G>T
XR_926871.2:n.3013+6729G>T
XR_926872.2:n.3145+6729G>T
NM_138694.4:c.11024C>A MANE Select	NP_619639.3:p.Thr3675Asn