Canonical Allele Identifier: CA5237935
Gene: GOLGA1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.124911921A>T
GRCh37 chr9:g.127674200A>T
Revel Score:
ENST00000373555 (MANE Select) 0.247
gnomAD v2:
9:127674200 A / T
gnomAD v3:
9:124911921 A / T
gnomAD v4:
chr9-124911921-A-T
Joint Max Group AF 0.00003507 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00003377 (NFE)
dbSNP:
583134
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124911921A>T , CM000671.2:g.124911921A>T GRCh38
NC_000009.11:g.127674200A>T , CM000671.1:g.127674200A>T GRCh37
NC_000009.10:g.126714021A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373555.9:c.949T>A MANE Select ENSP00000362656.4:p.Leu317Met
ENST00000373555.8:c.949T>A ENSP00000362656.4:p.Leu317Met
ENST00000475407.5:c.600T>A
ENST00000485337.1:c.277T>A ENSP00000435006.1:p.Leu93Met
XM_005251929.2:c.949T>A XP_005251986.1:p.Leu317Met
XM_006717062.2:c.949T>A XP_006717125.1:p.Leu317Met
XM_006717063.2:c.949T>A XP_006717126.1:p.Leu317Met
XR_929766.1:n.1298T>A
XM_005251929.4:c.949T>A XP_005251986.1:p.Leu317Met
XM_006717062.4:c.949T>A XP_006717125.1:p.Leu317Met
XM_006717063.4:c.949T>A XP_006717126.1:p.Leu317Met
NM_002077.4:c.949T>A MANE Select NP_002068.2:p.Leu317Met
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