Canonical Allele Identifier: CA6739518
Gene: GAS2L3 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.100600418A>G
GRCh37 chr12:g.100994196A>G
Revel Score:
ENST00000266754 0.034
ENST00000547754 (MANE Select) 0.034
ENST00000550295 0.034
ENST00000539410 0.034
gnomAD v2:
12:100994196 A / G
gnomAD v3:
12:100600418 A / G
gnomAD v4:
chr12-100600418-A-G
Joint Max Group AF 0.00044225 (NFE)
Genomes Max Group AF 0.00024292 (NFE)
Exomes Max Group AF 0.00044861 (NFE)
ClinVar RCV:
RCV004166040
ClinVar Variation:
2318880
dbSNP:
200322137
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.100600418A>G , CM000674.2:g.100600418A>G GRCh38
NC_000012.11:g.100994196A>G , CM000674.1:g.100994196A>G GRCh37
NC_000012.10:g.99518327A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000547754.6:c.55A>G MANE Select ENSP00000448955.1:p.Ser19Gly
ENST00000266754.9:c.55A>G ENSP00000266754.5:p.Ser19Gly
ENST00000537247.5:c.-514A>G ENSP00000442406.1:n.-514A>G
ENST00000539410.2:c.55A>G ENSP00000439672.1:p.Ser19Gly
ENST00000547754.5:c.55A>G ENSP00000448955.1:p.Ser19Gly
ENST00000550295.1:c.55A>G ENSP00000448184.1:p.Ser19Gly
NM_001303130.1:c.55A>G NP_001290059.1:p.Ser19Gly
NM_001303131.1:c.-514A>G NP_001290060.1:n.-514A>G
NM_174942.2:c.55A>G NP_777602.1:p.Ser19Gly
XM_005268804.2:c.55A>G XP_005268861.1:p.Ser19Gly
XM_011538219.1:c.55A>G XP_011536521.1:p.Ser19Gly
XM_011538220.1:c.55A>G XP_011536522.1:p.Ser19Gly
XM_011538221.1:c.55A>G XP_011536523.1:p.Ser19Gly
NM_001363672.1:c.55A>G NP_001350601.1:p.Ser19Gly
XM_005268804.3:c.55A>G XP_005268861.1:p.Ser19Gly
XM_011538220.2:c.55A>G XP_011536522.1:p.Ser19Gly
XM_011538221.2:c.55A>G XP_011536523.1:p.Ser19Gly
XM_017019206.1:c.55A>G XP_016874695.1:p.Ser19Gly
NM_174942.3:c.55A>G MANE Select NP_777602.1:p.Ser19Gly
NM_001303130.2:c.55A>G NP_001290059.1:p.Ser19Gly
NM_001363672.2:c.55A>G NP_001350601.1:p.Ser19Gly
NM_001303131.2:c.-514A>G NP_001290060.1:n.-514A>G
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