Canonical Allele Identifier: CA14651631
Gene: SGTA HGNC NCBI

Linked Data

dbSNP Id: rs1640262
gnomAD v2: 19-2779134-T-C
gnomAD v3: 19-2779136-T-C
gnomAD v4: 19-2779136-T-C
MyVariant Identifiers: chr19:g.2779134T>C (hg19) chr19:g.2779136T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2779136T>C , CM000681.2:g.2779136T>C GRCh38
NC_000019.9:g.2779134T>C , CM000681.1:g.2779134T>C GRCh37
NC_000019.8:g.2730134T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221566.7:c.-24+4097A>G MANE Select ENSP00000221566.1:n.-24+4097A>G
ENST00000676943.1:c.-24+3434A>G ENSP00000504495.1:n.-24+3434A>G
ENST00000676984.1:c.-70+4097A>G ENSP00000504741.1:n.-70+4097A>G
ENST00000677149.1:c.-24+4097A>G ENSP00000503397.1:n.-24+4097A>G
ENST00000677513.1:n.48+4097A>G
ENST00000677562.1:c.-24+4097A>G ENSP00000504146.1:n.-24+4097A>G
ENST00000677731.1:n.95+4097A>G
ENST00000677754.1:c.-24+4097A>G ENSP00000504843.1:n.-24+4097A>G
ENST00000678109.1:c.-24+4097A>G ENSP00000504855.1:n.-24+4097A>G
ENST00000678577.1:n.95+4097A>G
ENST00000678595.1:c.-24+4097A>G ENSP00000503090.1:n.-24+4097A>G
ENST00000679138.1:c.-24+4097A>G ENSP00000504149.1:n.-24+4097A>G
ENST00000221566.6:c.-24+4097A>G ENSP00000221566.1:n.-24+4097A>G
ENST00000586711.1:n.51-1123A>G
ENST00000589251.5:c.-24+3434A>G ENSP00000466461.1:n.-24+3434A>G
NM_003021.3:c.-24+4097A>G NP_003012.1:n.-24+4097A>G
XM_011528178.1:c.-24+3434A>G XP_011526480.1:n.-24+3434A>G
XM_011528178.3:c.-24+3434A>G XP_011526480.1:n.-24+3434A>G
NM_003021.4:c.-24+4097A>G MANE Select NP_003012.1:n.-24+4097A>G
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