Canonical Allele Identifier: CA464263044
Gene: PLAA HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.26905706T>G , CM000671.2:g.26905706T>G GRCh38
NC_000009.11:g.26905704T>G , CM000671.1:g.26905704T>G GRCh37
NC_000009.10:g.26895704T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000397292.8:c.2193A>C MANE Select ENSP00000380460.3:p.Thr731=
ENST00000397292.7:c.2193A>C ENSP00000380460.3:p.Thr731=
NM_001031689.2:c.2193A>C NP_001026859.1:p.Thr731=
XM_011518071.1:c.2124A>C XP_011516373.1:p.Thr708=
NM_001321546.1:c.2124A>C NP_001308475.1:p.Thr708=
XR_001746420.2:n.2498A>C
NM_001031689.3:c.2193A>C MANE Select NP_001026859.1:p.Thr731=
NM_001321546.2:c.2124A>C NP_001308475.1:p.Thr708=