Canonical Allele Identifier: CA12978967
Gene: PLGRKT HGNC NCBI

Linked Data

dbSNP Id: rs9785219
gnomAD v2: 9-5372266-T-C
gnomAD v3: 9-5372266-T-C
gnomAD v4: 9-5372266-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5372266T>C , CM000671.2:g.5372266T>C GRCh38
NC_000009.11:g.5372266T>C , CM000671.1:g.5372266T>C GRCh37
NC_000009.10:g.5362266T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000223864.7:c.82-10378A>G MANE Select ENSP00000223864.2:n.82-10378A>G
ENST00000223864.6:c.82-10378A>G ENSP00000223864.2:n.82-10378A>G
ENST00000472145.5:n.289-10378A>G
ENST00000482696.5:n.461+9597A>G
NM_018465.3:c.82-10378A>G NP_060935.2:n.82-10378A>G
XM_005251510.3:c.82-10378A>G XP_005251567.1:n.82-10378A>G
XM_005251512.3:c.-19+9597A>G XP_005251569.1:n.-19+9597A>G
XM_011517960.1:c.82-10378A>G XP_011516262.1:n.82-10378A>G
XM_005251510.5:c.82-10378A>G XP_005251567.1:n.82-10378A>G
XM_005251512.4:c.-19+9597A>G XP_005251569.1:n.-19+9597A>G
XM_011517960.2:c.82-10378A>G XP_011516262.1:n.82-10378A>G
NM_018465.4:c.82-10378A>G MANE Select NP_060935.2:n.82-10378A>G