Canonical Allele Identifier: CA257894059
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs964070022
gnomAD v2: 14-24725486-C-G
gnomAD v3: 14-24256280-C-G
gnomAD v4: 14-24256280-C-G
MyVariant Identifiers: chr14:g.24725486C>G (hg19) chr14:g.24725486_24725488delinsGAA (hg19) chr14:g.24256280C>G (hg38) chr14:g.24256280_24256282delinsGAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256280C>G , CM000676.2:g.24256280C>G GRCh38
NC_000014.8:g.24725486C>G , CM000676.1:g.24725486C>G GRCh37
NC_000014.7:g.23795326C>G NCBI36
NG_007150.1:g.11887G>C
NG_007150.2:g.11887G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1403-203G>C MANE Select ENSP00000206765.6:n.1403-203G>C
ENST00000206765.10:c.1403-203G>C ENSP00000206765.6:n.1403-203G>C
ENST00000544573.5:c.77-203G>C ENSP00000439446.1:n.77-203G>C
ENST00000559136.1:c.476-203G>C ENSP00000453337.1:n.476-203G>C
NM_000359.2:c.1403-203G>C NP_000350.1:n.1403-203G>C
NM_000359.3:c.1403-203G>C MANE Select NP_000350.1:n.1403-203G>C
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