Canonical Allele Identifier: CA16041073
Gene: PKHD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371436
ClinVar RCV Id: RCV000410878
dbSNP Id: rs1057517270

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.52076274A>G , CM000668.2:g.52076274A>G GRCh38
NC_000006.10:g.52049031A>G NCBI36
NC_000006.11:g.51941072A>G , CM000668.1:g.51941072A>G GRCh37
NG_008753.1:g.16352T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000340994.4:c.448+2T>C ENSP00000341097.4:p.=
ENST00000371117.7:c.448+2T>C ENSP00000360158.3:p.=
NM_138694.3:c.448+2T>C NP_619639.3:p.=
NM_170724.2:c.448+2T>C NP_733842.2:p.=
XM_011514679.1:c.448+2T>C XP_011512981.1:p.=
XM_011514680.1:c.448+2T>C XP_011512982.1:p.=
XM_011514681.1:c.448+2T>C XP_011512983.1:p.=
XM_011514682.1:c.448+2T>C XP_011512984.1:p.=
XM_011514683.1:c.448+2T>C XP_011512985.1:p.=
XM_011514685.1:c.448+2T>C XP_011512987.1:p.=
XM_011514686.1:c.448+2T>C XP_011512988.1:p.=
XM_011514687.1:c.448+2T>C XP_011512989.1:p.=
XM_011514688.1:c.448+2T>C XP_011512990.1:p.=
XM_011514689.1:c.448+2T>C XP_011512991.1:p.=