Canonical Allele Identifier: CA364436334

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659801-C-T
• COSMIC: COSM5003007
• MyVariant Identifiers: chr6:g.51524599C>T (hg19) ; chr6:g.51659801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659801C>T , CM000668.2:g.51659801C>T	GRCh38
NC_000006.11:g.51524599C>T , CM000668.1:g.51524599C>T	GRCh37
NC_000006.10:g.51632558C>T	NCBI36
NG_008753.1:g.432825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10325G>A MANE Select	ENSP00000360158.3:p.Ser3442Asn
ENST00000371117.7:c.10325G>A	ENSP00000360158.3:p.Ser3442Asn
NM_138694.3:c.10325G>A	NP_619639.3:p.Ser3442Asn
XM_011514679.1:c.10325G>A	XP_011512981.1:p.Ser3442Asn
XM_011514680.1:c.10325G>A	XP_011512982.1:p.Ser3442Asn
XM_011514681.1:c.10196G>A	XP_011512983.1:p.Ser3399Asn
XM_011514682.1:c.10187G>A	XP_011512984.1:p.Ser3396Asn
XM_011514683.1:c.9683G>A	XP_011512985.1:p.Ser3228Asn
XM_011514684.1:c.9614G>A	XP_011512986.1:p.Ser3205Asn
XM_011514687.1:c.10157-10581G>A	XP_011512989.1:n.10157-10581G>A
XM_011514690.1:c.4400G>A	XP_011512992.1:p.Ser1467Asn
XM_011514691.1:c.4400G>A	XP_011512993.1:p.Ser1467Asn
XR_926870.1:n.535+7428C>T
XR_926871.1:n.403+7428C>T
XR_926872.1:n.535+7428C>T
XM_011514680.3:c.10325G>A	XP_011512982.1:p.Ser3442Asn
XM_011514682.3:c.10187G>A	XP_011512984.1:p.Ser3396Asn
XM_011514683.3:c.9683G>A	XP_011512985.1:p.Ser3228Asn
XM_011514684.3:c.9614G>A	XP_011512986.1:p.Ser3205Asn
XM_011514690.3:c.4400G>A	XP_011512992.1:p.Ser1467Asn
XM_011514691.3:c.4400G>A	XP_011512993.1:p.Ser1467Asn
XM_017010944.2:c.10325G>A	XP_016866433.1:p.Ser3442Asn
XM_017010945.2:c.10250G>A	XP_016866434.1:p.Ser3417Asn
XM_017010946.2:c.10130G>A	XP_016866435.1:p.Ser3377Asn
XM_017010947.2:c.10061G>A	XP_016866436.1:p.Ser3354Asn
XM_017010948.2:c.9614G>A	XP_016866437.1:p.Ser3205Asn
XM_017010949.2:c.8465G>A	XP_016866438.1:p.Ser2822Asn
XR_001743469.1:n.10601G>A
XR_001744157.1:n.3145+7428C>T
XR_926870.2:n.3145+7428C>T
XR_926871.2:n.3013+7428C>T
XR_926872.2:n.3145+7428C>T
NM_138694.4:c.10325G>A MANE Select	NP_619639.3:p.Ser3442Asn