Canonical Allele Identifier: CA257898914
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs532188834
gnomAD v2: 14-24728714-C-A
gnomAD v3: 14-24259508-C-A
gnomAD v4: 14-24259508-C-A
MyVariant Identifiers: chr14:g.24728714C>A (hg19) chr14:g.24259508C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259508C>A , CM000676.2:g.24259508C>A GRCh38
NC_000014.8:g.24728714C>A , CM000676.1:g.24728714C>A GRCh37
NC_000014.7:g.23798554C>A NCBI36
NG_007150.1:g.8659G>T
NG_007150.2:g.8659G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.984+196G>T MANE Select ENSP00000206765.6:n.984+196G>T
ENST00000206765.10:c.984+196G>T ENSP00000206765.6:n.984+196G>T
ENST00000544573.5:c.-28-1120G>T ENSP00000439446.1:n.-28-1120G>T
ENST00000559136.1:c.57+196G>T ENSP00000453337.1:n.57+196G>T
NM_000359.2:c.984+196G>T NP_000350.1:n.984+196G>T
NM_000359.3:c.984+196G>T MANE Select NP_000350.1:n.984+196G>T
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