Canonical Allele Identifier: CA5014150

Gene: PLAA

Linked Data

• ClinVar Variation Id: 1370231
• ClinVar RCV Id: RCV001877053 ; RCV002551083
• dbSNP Id: rs777597597
• ExAC: 9:26905603 G / T
• gnomAD v2: 9-26905603-G-T
• gnomAD v3: 9-26905605-G-T
• gnomAD v4: 9-26905605-G-T
• MyVariant Identifiers: chr9:g.26905603G>T (hg19) ; chr9:g.26905605G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.26905605G>T , CM000671.2:g.26905605G>T	GRCh38
NC_000009.11:g.26905603G>T , CM000671.1:g.26905603G>T	GRCh37
NC_000009.10:g.26895603G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397292.8:c.2294C>A MANE Select	ENSP00000380460.3:p.Ser765Tyr
ENST00000397292.7:c.2294C>A	ENSP00000380460.3:p.Ser765Tyr
NM_001031689.2:c.2294C>A	NP_001026859.1:p.Ser765Tyr
XM_011518071.1:c.2225C>A	XP_011516373.1:p.Ser742Tyr
NM_001321546.1:c.2225C>A	NP_001308475.1:p.Ser742Tyr
XR_001746420.2:n.2599C>A
NM_001031689.3:c.2294C>A MANE Select	NP_001026859.1:p.Ser765Tyr
NM_001321546.2:c.2225C>A	NP_001308475.1:p.Ser742Tyr