Canonical Allele Identifier: CA1120811914

Gene: PLGRKT

Linked Data

• dbSNP Id: rs1817542051
• gnomAD v3: 9-5372535-G-A
• gnomAD v4: 9-5372535-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.5372535G>A , CM000671.2:g.5372535G>A	GRCh38
NC_000009.11:g.5372535G>A , CM000671.1:g.5372535G>A	GRCh37
NC_000009.10:g.5362535G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223864.7:c.82-10647C>T MANE Select	ENSP00000223864.2:n.82-10647C>T
ENST00000223864.6:c.82-10647C>T	ENSP00000223864.2:n.82-10647C>T
ENST00000472145.5:n.289-10647C>T
ENST00000482696.5:n.461+9328C>T
NM_018465.3:c.82-10647C>T	NP_060935.2:n.82-10647C>T
XM_005251510.3:c.82-10647C>T	XP_005251567.1:n.82-10647C>T
XM_005251512.3:c.-19+9328C>T	XP_005251569.1:n.-19+9328C>T
XM_011517960.1:c.82-10647C>T	XP_011516262.1:n.82-10647C>T
XM_005251510.5:c.82-10647C>T	XP_005251567.1:n.82-10647C>T
XM_005251512.4:c.-19+9328C>T	XP_005251569.1:n.-19+9328C>T
XM_011517960.2:c.82-10647C>T	XP_011516262.1:n.82-10647C>T
NM_018465.4:c.82-10647C>T MANE Select	NP_060935.2:n.82-10647C>T