Canonical Allele Identifier: CA373128693

Gene: PLAA

Linked Data

• ClinVar Variation Id: 1468099
• ClinVar RCV Id: RCV001970581
• dbSNP Id: rs2131363823
• MyVariant Identifiers: chr9:g.26907889C>G (hg19) ; chr9:g.26907891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.26907891C>G , CM000671.2:g.26907891C>G	GRCh38
NC_000009.11:g.26907889C>G , CM000671.1:g.26907889C>G	GRCh37
NC_000009.10:g.26897889C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397292.8:c.1765G>C MANE Select	ENSP00000380460.3:p.Glu589Gln
ENST00000397292.7:c.1765G>C	ENSP00000380460.3:p.Glu589Gln
ENST00000487173.5:c.344G>C
ENST00000517642.5:c.675-1815G>C
ENST00000520884.5:c.1765G>C	ENSP00000429372.1:p.Glu589Gln
NM_001031689.2:c.1765G>C	NP_001026859.1:p.Glu589Gln
XM_011518071.1:c.1696G>C	XP_011516373.1:p.Glu566Gln
NM_001321546.1:c.1696G>C	NP_001308475.1:p.Glu566Gln
XR_001746420.2:n.2070G>C
NM_001031689.3:c.1765G>C MANE Select	NP_001026859.1:p.Glu589Gln
NM_001321546.2:c.1696G>C	NP_001308475.1:p.Glu566Gln