Canonical Allele Identifier: CA3851100

Gene: PKHD1

Linked Data

• dbSNP Id: rs766947153
• ExAC: 6:51524596 C / T
• gnomAD v2: 6-51524596-C-T
• gnomAD v4: 6-51659798-C-T
• MyVariant Identifiers: chr6:g.51524596C>T (hg19) ; chr6:g.51659798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659798C>T , CM000668.2:g.51659798C>T	GRCh38
NC_000006.11:g.51524596C>T , CM000668.1:g.51524596C>T	GRCh37
NC_000006.10:g.51632555C>T	NCBI36
NG_008753.1:g.432828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10328G>A MANE Select	ENSP00000360158.3:p.Ser3443Asn
ENST00000371117.7:c.10328G>A	ENSP00000360158.3:p.Ser3443Asn
NM_138694.3:c.10328G>A	NP_619639.3:p.Ser3443Asn
XM_011514679.1:c.10328G>A	XP_011512981.1:p.Ser3443Asn
XM_011514680.1:c.10328G>A	XP_011512982.1:p.Ser3443Asn
XM_011514681.1:c.10199G>A	XP_011512983.1:p.Ser3400Asn
XM_011514682.1:c.10190G>A	XP_011512984.1:p.Ser3397Asn
XM_011514683.1:c.9686G>A	XP_011512985.1:p.Ser3229Asn
XM_011514684.1:c.9617G>A	XP_011512986.1:p.Ser3206Asn
XM_011514687.1:c.10157-10578G>A	XP_011512989.1:n.10157-10578G>A
XM_011514690.1:c.4403G>A	XP_011512992.1:p.Ser1468Asn
XM_011514691.1:c.4403G>A	XP_011512993.1:p.Ser1468Asn
XR_926870.1:n.535+7425C>T
XR_926871.1:n.403+7425C>T
XR_926872.1:n.535+7425C>T
XM_011514680.3:c.10328G>A	XP_011512982.1:p.Ser3443Asn
XM_011514682.3:c.10190G>A	XP_011512984.1:p.Ser3397Asn
XM_011514683.3:c.9686G>A	XP_011512985.1:p.Ser3229Asn
XM_011514684.3:c.9617G>A	XP_011512986.1:p.Ser3206Asn
XM_011514690.3:c.4403G>A	XP_011512992.1:p.Ser1468Asn
XM_011514691.3:c.4403G>A	XP_011512993.1:p.Ser1468Asn
XM_017010944.2:c.10328G>A	XP_016866433.1:p.Ser3443Asn
XM_017010945.2:c.10253G>A	XP_016866434.1:p.Ser3418Asn
XM_017010946.2:c.10133G>A	XP_016866435.1:p.Ser3378Asn
XM_017010947.2:c.10064G>A	XP_016866436.1:p.Ser3355Asn
XM_017010948.2:c.9617G>A	XP_016866437.1:p.Ser3206Asn
XM_017010949.2:c.8468G>A	XP_016866438.1:p.Ser2823Asn
XR_001743469.1:n.10604G>A
XR_001744157.1:n.3145+7425C>T
XR_926870.2:n.3145+7425C>T
XR_926871.2:n.3013+7425C>T
XR_926872.2:n.3145+7425C>T
NM_138694.4:c.10328G>A MANE Select	NP_619639.3:p.Ser3443Asn