Canonical Allele Identifier: CA386249913

Gene: GAS2L3

Linked Data

• ClinVar Variation Id: 3098647
• ClinVar RCV Id: RCV004395012
• gnomAD v4: 12-100624781-C-A
• MyVariant Identifiers: chr12:g.101018559C>A (hg19) ; chr12:g.100624781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.100624781C>A , CM000674.2:g.100624781C>A	GRCh38
NC_000012.11:g.101018559C>A , CM000674.1:g.101018559C>A	GRCh37
NC_000012.10:g.99542690C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547754.6:c.1976C>A MANE Select	ENSP00000448955.1:p.Pro659His
ENST00000266754.9:c.1976C>A	ENSP00000266754.5:p.Pro659His
ENST00000537247.5:c.1664C>A	ENSP00000442406.1:p.Pro555His
ENST00000539410.2:c.1976C>A	ENSP00000439672.1:p.Pro659His
ENST00000547754.5:c.1976C>A	ENSP00000448955.1:p.Pro659His
ENST00000552854.1:c.1067C>A	ENSP00000450107.1:p.Pro356His
NM_001303130.1:c.1976C>A	NP_001290059.1:p.Pro659His
NM_001303131.1:c.1664C>A	NP_001290060.1:p.Pro555His
NM_174942.2:c.1976C>A	NP_777602.1:p.Pro659His
XM_005268804.2:c.1976C>A	XP_005268861.1:p.Pro659His
XM_011538219.1:c.1976C>A	XP_011536521.1:p.Pro659His
XM_011538220.1:c.1976C>A	XP_011536522.1:p.Pro659His
XM_011538221.1:c.1976C>A	XP_011536523.1:p.Pro659His
XM_011538222.1:c.1220C>A	XP_011536524.1:p.Pro407His
NM_001363672.1:c.1976C>A	NP_001350601.1:p.Pro659His
XM_005268804.3:c.1976C>A	XP_005268861.1:p.Pro659His
XM_011538220.2:c.1976C>A	XP_011536522.1:p.Pro659His
XM_011538221.2:c.1976C>A	XP_011536523.1:p.Pro659His
XM_017019206.1:c.1976C>A	XP_016874695.1:p.Pro659His
NM_174942.3:c.1976C>A MANE Select	NP_777602.1:p.Pro659His
NM_001303130.2:c.1976C>A	NP_001290059.1:p.Pro659His
NM_001363672.2:c.1976C>A	NP_001350601.1:p.Pro659His
NM_001303131.2:c.1664C>A	NP_001290060.1:p.Pro555His