Canonical Allele Identifier: CA2679076981

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659974-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659974A>G , CM000668.2:g.51659974A>G	GRCh38
NC_000006.11:g.51524772A>G , CM000668.1:g.51524772A>G	GRCh37
NC_000006.10:g.51632731A>G	NCBI36
NG_008753.1:g.432652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-5T>C MANE Select	ENSP00000360158.3:n.10157-5T>C
ENST00000371117.7:c.10157-5T>C	ENSP00000360158.3:n.10157-5T>C
NM_138694.3:c.10157-5T>C	NP_619639.3:n.10157-5T>C
XM_011514679.1:c.10157-5T>C	XP_011512981.1:n.10157-5T>C
XM_011514680.1:c.10157-5T>C	XP_011512982.1:n.10157-5T>C
XM_011514681.1:c.10028-5T>C	XP_011512983.1:n.10028-5T>C
XM_011514682.1:c.10019-5T>C	XP_011512984.1:n.10019-5T>C
XM_011514683.1:c.9515-5T>C	XP_011512985.1:n.9515-5T>C
XM_011514684.1:c.9446-5T>C	XP_011512986.1:n.9446-5T>C
XM_011514687.1:c.10157-10754T>C	XP_011512989.1:n.10157-10754T>C
XM_011514690.1:c.4232-5T>C	XP_011512992.1:n.4232-5T>C
XM_011514691.1:c.4232-5T>C	XP_011512993.1:n.4232-5T>C
XR_926870.1:n.535+7601A>G
XR_926871.1:n.403+7601A>G
XR_926872.1:n.535+7601A>G
XM_011514680.3:c.10157-5T>C	XP_011512982.1:n.10157-5T>C
XM_011514682.3:c.10019-5T>C	XP_011512984.1:n.10019-5T>C
XM_011514683.3:c.9515-5T>C	XP_011512985.1:n.9515-5T>C
XM_011514684.3:c.9446-5T>C	XP_011512986.1:n.9446-5T>C
XM_011514690.3:c.4232-5T>C	XP_011512992.1:n.4232-5T>C
XM_011514691.3:c.4232-5T>C	XP_011512993.1:n.4232-5T>C
XM_017010944.2:c.10157-5T>C	XP_016866433.1:n.10157-5T>C
XM_017010945.2:c.10082-5T>C	XP_016866434.1:n.10082-5T>C
XM_017010946.2:c.9962-5T>C	XP_016866435.1:n.9962-5T>C
XM_017010947.2:c.9893-5T>C	XP_016866436.1:n.9893-5T>C
XM_017010948.2:c.9446-5T>C	XP_016866437.1:n.9446-5T>C
XM_017010949.2:c.8297-5T>C	XP_016866438.1:n.8297-5T>C
XR_001743469.1:n.10433-5T>C
XR_001744157.1:n.3145+7601A>G
XR_926870.2:n.3145+7601A>G
XR_926871.2:n.3013+7601A>G
XR_926872.2:n.3145+7601A>G
NM_138694.4:c.10157-5T>C MANE Select	NP_619639.3:n.10157-5T>C