Canonical Allele Identifier: CA373128302

Gene: PLAA

Linked Data

• ClinVar Variation Id: 1950846
• ClinVar RCV Id: RCV002681537
• MyVariant Identifiers: chr9:g.26907825T>G (hg19) ; chr9:g.26907827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.26907827T>G , CM000671.2:g.26907827T>G	GRCh38
NC_000009.11:g.26907825T>G , CM000671.1:g.26907825T>G	GRCh37
NC_000009.10:g.26897825T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397292.8:c.1822+7A>C MANE Select	ENSP00000380460.3:n.1822+7A>C
ENST00000397292.7:c.1822+7A>C	ENSP00000380460.3:n.1822+7A>C
ENST00000487173.5:c.408A>C
ENST00000517642.5:c.675-1751A>C
ENST00000520884.5:c.1829A>C	ENSP00000429372.1:p.Ter610Ser
NM_001031689.2:c.1822+7A>C	NP_001026859.1:n.1822+7A>C
XM_011518071.1:c.1753+7A>C	XP_011516373.1:n.1753+7A>C
NM_001321546.1:c.1753+7A>C	NP_001308475.1:n.1753+7A>C
XR_001746420.2:n.2127+7A>C
NM_001031689.3:c.1822+7A>C MANE Select	NP_001026859.1:n.1822+7A>C
NM_001321546.2:c.1753+7A>C	NP_001308475.1:n.1753+7A>C