Canonical Allele Identifier: CA364431126

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659192-T-G
• MyVariant Identifiers: chr6:g.51523990T>G (hg19) ; chr6:g.51659192T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659192T>G , CM000668.2:g.51659192T>G	GRCh38
NC_000006.11:g.51523990T>G , CM000668.1:g.51523990T>G	GRCh37
NC_000006.10:g.51631949T>G	NCBI36
NG_008753.1:g.433434A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10934A>C MANE Select	ENSP00000360158.3:p.Asn3645Thr
ENST00000371117.7:c.10934A>C	ENSP00000360158.3:p.Asn3645Thr
NM_138694.3:c.10934A>C	NP_619639.3:p.Asn3645Thr
XM_011514679.1:c.10934A>C	XP_011512981.1:p.Asn3645Thr
XM_011514680.1:c.10934A>C	XP_011512982.1:p.Asn3645Thr
XM_011514681.1:c.10805A>C	XP_011512983.1:p.Asn3602Thr
XM_011514682.1:c.10796A>C	XP_011512984.1:p.Asn3599Thr
XM_011514683.1:c.10292A>C	XP_011512985.1:p.Asn3431Thr
XM_011514684.1:c.10223A>C	XP_011512986.1:p.Asn3408Thr
XM_011514687.1:c.10157-9972A>C	XP_011512989.1:n.10157-9972A>C
XM_011514690.1:c.5009A>C	XP_011512992.1:p.Asn1670Thr
XM_011514691.1:c.5009A>C	XP_011512993.1:p.Asn1670Thr
XR_926870.1:n.535+6819T>G
XR_926871.1:n.403+6819T>G
XR_926872.1:n.535+6819T>G
XM_011514680.3:c.10934A>C	XP_011512982.1:p.Asn3645Thr
XM_011514682.3:c.10796A>C	XP_011512984.1:p.Asn3599Thr
XM_011514683.3:c.10292A>C	XP_011512985.1:p.Asn3431Thr
XM_011514684.3:c.10223A>C	XP_011512986.1:p.Asn3408Thr
XM_011514690.3:c.5009A>C	XP_011512992.1:p.Asn1670Thr
XM_011514691.3:c.5009A>C	XP_011512993.1:p.Asn1670Thr
XM_017010944.2:c.10934A>C	XP_016866433.1:p.Asn3645Thr
XM_017010945.2:c.10859A>C	XP_016866434.1:p.Asn3620Thr
XM_017010946.2:c.10739A>C	XP_016866435.1:p.Asn3580Thr
XM_017010947.2:c.10670A>C	XP_016866436.1:p.Asn3557Thr
XM_017010948.2:c.10223A>C	XP_016866437.1:p.Asn3408Thr
XM_017010949.2:c.9074A>C	XP_016866438.1:p.Asn3025Thr
XR_001743469.1:n.11210A>C
XR_001744157.1:n.3145+6819T>G
XR_926870.2:n.3145+6819T>G
XR_926871.2:n.3013+6819T>G
XR_926872.2:n.3145+6819T>G
NM_138694.4:c.10934A>C MANE Select	NP_619639.3:p.Asn3645Thr