Canonical Allele Identifier: CA1120811860
Gene: PLGRKT HGNC NCBI

Linked Data

dbSNP Id: rs1817538540
gnomAD v3: 9-5372377-C-T
gnomAD v4: 9-5372377-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5372377C>T , CM000671.2:g.5372377C>T GRCh38
NC_000009.11:g.5372377C>T , CM000671.1:g.5372377C>T GRCh37
NC_000009.10:g.5362377C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000223864.7:c.82-10489G>A MANE Select ENSP00000223864.2:n.82-10489G>A
ENST00000223864.6:c.82-10489G>A ENSP00000223864.2:n.82-10489G>A
ENST00000472145.5:n.289-10489G>A
ENST00000482696.5:n.461+9486G>A
NM_018465.3:c.82-10489G>A NP_060935.2:n.82-10489G>A
XM_005251510.3:c.82-10489G>A XP_005251567.1:n.82-10489G>A
XM_005251512.3:c.-19+9486G>A XP_005251569.1:n.-19+9486G>A
XM_011517960.1:c.82-10489G>A XP_011516262.1:n.82-10489G>A
XM_005251510.5:c.82-10489G>A XP_005251567.1:n.82-10489G>A
XM_005251512.4:c.-19+9486G>A XP_005251569.1:n.-19+9486G>A
XM_011517960.2:c.82-10489G>A XP_011516262.1:n.82-10489G>A
NM_018465.4:c.82-10489G>A MANE Select NP_060935.2:n.82-10489G>A