Canonical Allele Identifier: CA3850924

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 414168
• ClinVar RCV Id: RCV000463053 ; RCV001357091 ; RCV003932735
• dbSNP Id: rs557211301
• ExAC: 6:51513969 C / T
• gnomAD v2: 6-51513969-C-T
• gnomAD v3: 6-51649171-C-T
• gnomAD v4: 6-51649171-C-T
• MyVariant Identifiers: chr6:g.51513969C>T (hg19) ; chr6:g.51649171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51649171C>T , CM000668.2:g.51649171C>T	GRCh38
NC_000006.11:g.51513969C>T , CM000668.1:g.51513969C>T	GRCh37
NC_000006.10:g.51621928C>T	NCBI36
NG_008753.1:g.443455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11224G>A MANE Select	ENSP00000360158.3:p.Ala3742Thr
ENST00000371117.7:c.11224G>A	ENSP00000360158.3:p.Ala3742Thr
NM_138694.3:c.11224G>A	NP_619639.3:p.Ala3742Thr
XM_011514679.1:c.11224G>A	XP_011512981.1:p.Ala3742Thr
XM_011514680.1:c.11224G>A	XP_011512982.1:p.Ala3742Thr
XM_011514681.1:c.11095G>A	XP_011512983.1:p.Ala3699Thr
XM_011514682.1:c.11086G>A	XP_011512984.1:p.Ala3696Thr
XM_011514683.1:c.10582G>A	XP_011512985.1:p.Ala3528Thr
XM_011514684.1:c.10513G>A	XP_011512986.1:p.Ala3505Thr
XM_011514687.1:c.*18G>A	XP_011512989.1:n.*18G>A
XM_011514690.1:c.5299G>A	XP_011512992.1:p.Ala1767Thr
XM_011514691.1:c.5299G>A	XP_011512993.1:p.Ala1767Thr
XM_011514680.3:c.11224G>A	XP_011512982.1:p.Ala3742Thr
XM_011514682.3:c.11086G>A	XP_011512984.1:p.Ala3696Thr
XM_011514683.3:c.10582G>A	XP_011512985.1:p.Ala3528Thr
XM_011514684.3:c.10513G>A	XP_011512986.1:p.Ala3505Thr
XM_011514690.3:c.5299G>A	XP_011512992.1:p.Ala1767Thr
XM_011514691.3:c.5299G>A	XP_011512993.1:p.Ala1767Thr
XM_017010944.2:c.11224G>A	XP_016866433.1:p.Ala3742Thr
XM_017010945.2:c.11149G>A	XP_016866434.1:p.Ala3717Thr
XM_017010946.2:c.11029G>A	XP_016866435.1:p.Ala3677Thr
XM_017010947.2:c.10960G>A	XP_016866436.1:p.Ala3654Thr
XM_017010948.2:c.10513G>A	XP_016866437.1:p.Ala3505Thr
XM_017010949.2:c.9364G>A	XP_016866438.1:p.Ala3122Thr
XR_001743469.1:n.11500G>A
NM_138694.4:c.11224G>A MANE Select	NP_619639.3:p.Ala3742Thr