Canonical Allele Identifier: CA5014197
Gene: PLAA HGNC NCBI
ClinVar RCV:
RCV002011214
RCV002657693
ClinVar Variation:
1503293
dbSNP:
775468968
gnomAD v2:
9:26905983 C / G
gnomAD v3:
9:26905985 C / G
gnomAD v4:
chr9-26905985-C-G
Joint Max Group AF 0.00017686 (AFR)
Genomes Max Group AF 0.00009573 (AFR)
Exomes Max Group AF 0.00020615 (AFR)
MyVariant.info:
GRCh38 chr9:g.26905985C>G
GRCh37 chr9:g.26905983C>G
Revel Score:
ENST00000397292 (MANE Select) 0.195
ENST00000517642 0.061
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.26905985C>G , CM000671.2:g.26905985C>G GRCh38
NC_000009.11:g.26905983C>G , CM000671.1:g.26905983C>G GRCh37
NC_000009.10:g.26895983C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000397292.8:c.1914G>C MANE Select ENSP00000380460.3:p.Gln638His
ENST00000397292.7:c.1914G>C ENSP00000380460.3:p.Gln638His
ENST00000517642.5:c.766G>C
NM_001031689.2:c.1914G>C NP_001026859.1:p.Gln638His
XM_011518071.1:c.1845G>C XP_011516373.1:p.Gln615His
NM_001321546.1:c.1845G>C NP_001308475.1:p.Gln615His
XR_001746420.2:n.2219G>C
NM_001031689.3:c.1914G>C MANE Select NP_001026859.1:p.Gln638His
NM_001321546.2:c.1845G>C NP_001308475.1:p.Gln615His
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