Canonical Allele Identifier: CA5014687
Gene: PLAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.26935058C>A , CM000671.2:g.26935058C>A GRCh38
NC_000009.11:g.26935056C>A , CM000671.1:g.26935056C>A GRCh37
NC_000009.10:g.26925056C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001031689.3:c.298G>T MANE Select NP_001026859.1:p.Asp100Tyr
ENST00000397292.8:c.298G>T MANE Select ENSP00000380460.3:p.Asp100Tyr
NM_001031689.2:c.298G>T NP_001026859.1:p.Asp100Tyr
NM_001321546.1:c.298G>T NP_001308475.1:p.Asp100Tyr
NM_001321546.2:c.298G>T NP_001308475.1:p.Asp100Tyr
ENST00000397292.7:c.298G>T ENSP00000380460.3:p.Asp100Tyr
ENST00000520884.5:c.298G>T ENSP00000429372.1:p.Asp100Tyr
ENST00000523212.1:c.227G>T
XM_011518071.1:c.298G>T XP_011516373.1:p.Asp100Tyr
XM_011518072.1:c.298G>T XP_011516374.1:p.Asp100Tyr
XM_011518072.3:c.298G>T XP_011516374.1:p.Asp100Tyr
XM_017015319.2:c.298G>T XP_016870808.1:p.Asp100Tyr
XR_001746420.2:n.520G>T