Canonical Allele Identifier: CA10624370

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 357382
• ClinVar RCV Id: RCV000330915
• dbSNP Id: rs546309551
• gnomAD v2: 6-51482320-A-G
• gnomAD v3: 6-51617522-A-G
• gnomAD v4: 6-51617522-A-G
• MyVariant Identifiers: chr6:g.51482320A>G (hg19) ; chr6:g.51617522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51617522A>G , CM000668.2:g.51617522A>G	GRCh38
NC_000006.11:g.51482320A>G , CM000668.1:g.51482320A>G	GRCh37
NC_000006.10:g.51590279A>G	NCBI36
NG_008753.1:g.475104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.*1559T>C MANE Select	ENSP00000360158.3:n.*1559T>C
ENST00000371117.7:c.*1559T>C	ENSP00000360158.3:n.*1559T>C
NM_138694.3:c.*1559T>C	NP_619639.3:n.*1559T>C
XM_011514679.1:c.*1559T>C	XP_011512981.1:n.*1559T>C
XM_011514680.1:c.*1559T>C	XP_011512982.1:n.*1559T>C
XM_011514681.1:c.*1559T>C	XP_011512983.1:n.*1559T>C
XM_011514682.1:c.*1559T>C	XP_011512984.1:n.*1559T>C
XM_011514683.1:c.*1559T>C	XP_011512985.1:n.*1559T>C
XM_011514684.1:c.*1559T>C	XP_011512986.1:n.*1559T>C
XM_011514690.1:c.*1559T>C	XP_011512992.1:n.*1559T>C
XM_011514691.1:c.*1559T>C	XP_011512993.1:n.*1559T>C
XM_011514680.3:c.*1559T>C	XP_011512982.1:n.*1559T>C
XM_011514682.3:c.*1559T>C	XP_011512984.1:n.*1559T>C
XM_011514683.3:c.*1559T>C	XP_011512985.1:n.*1559T>C
XM_011514684.3:c.*1559T>C	XP_011512986.1:n.*1559T>C
XM_011514690.3:c.*1559T>C	XP_011512992.1:n.*1559T>C
XM_011514691.3:c.*1559T>C	XP_011512993.1:n.*1559T>C
XM_017010944.2:c.*1559T>C	XP_016866433.1:n.*1559T>C
XM_017010945.2:c.*1559T>C	XP_016866434.1:n.*1559T>C
XM_017010946.2:c.*1559T>C	XP_016866435.1:n.*1559T>C
XM_017010947.2:c.*1559T>C	XP_016866436.1:n.*1559T>C
XM_017010948.2:c.*1559T>C	XP_016866437.1:n.*1559T>C
XM_017010949.2:c.*1559T>C	XP_016866438.1:n.*1559T>C
NM_138694.4:c.*1559T>C MANE Select	NP_619639.3:n.*1559T>C