Canonical Allele Identifier: CA257893647
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1027874149
gnomAD v2: 14-24725110-C-G
gnomAD v3: 14-24255904-C-G
gnomAD v4: 14-24255904-C-G
MyVariant Identifiers: chr14:g.24725110C>G (hg19) chr14:g.24255904C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255904C>G , CM000676.2:g.24255904C>G GRCh38
NC_000014.8:g.24725110C>G , CM000676.1:g.24725110C>G GRCh37
NC_000014.7:g.23794950C>G NCBI36
NG_007150.1:g.12263G>C
NG_007150.2:g.12263G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491+85G>C MANE Select ENSP00000206765.6:n.1491+85G>C
ENST00000206765.10:c.1491+85G>C ENSP00000206765.6:n.1491+85G>C
ENST00000544573.5:c.165+85G>C ENSP00000439446.1:n.165+85G>C
ENST00000559136.1:c.564+85G>C ENSP00000453337.1:n.564+85G>C
NM_000359.2:c.1491+85G>C NP_000350.1:n.1491+85G>C
NM_000359.3:c.1491+85G>C MANE Select NP_000350.1:n.1491+85G>C
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