Canonical Allele Identifier: CA188479886
Gene: PLGRKT HGNC NCBI

Linked Data

dbSNP Id: rs74678253
gnomAD v2: 9-5372366-G-A
gnomAD v3: 9-5372366-G-A
gnomAD v4: 9-5372366-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5372366G>A , CM000671.2:g.5372366G>A GRCh38
NC_000009.11:g.5372366G>A , CM000671.1:g.5372366G>A GRCh37
NC_000009.10:g.5362366G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000223864.7:c.82-10478C>T MANE Select ENSP00000223864.2:n.82-10478C>T
ENST00000223864.6:c.82-10478C>T ENSP00000223864.2:n.82-10478C>T
ENST00000472145.5:n.289-10478C>T
ENST00000482696.5:n.461+9497C>T
NM_018465.3:c.82-10478C>T NP_060935.2:n.82-10478C>T
XM_005251510.3:c.82-10478C>T XP_005251567.1:n.82-10478C>T
XM_005251512.3:c.-19+9497C>T XP_005251569.1:n.-19+9497C>T
XM_011517960.1:c.82-10478C>T XP_011516262.1:n.82-10478C>T
XM_005251510.5:c.82-10478C>T XP_005251567.1:n.82-10478C>T
XM_005251512.4:c.-19+9497C>T XP_005251569.1:n.-19+9497C>T
XM_011517960.2:c.82-10478C>T XP_011516262.1:n.82-10478C>T
NM_018465.4:c.82-10478C>T MANE Select NP_060935.2:n.82-10478C>T