Canonical Allele Identifier: CA7131261
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs758243924
ExAC: 14:24729135 C / A
gnomAD v2: 14-24729135-C-A
gnomAD v4: 14-24259929-C-A
MyVariant Identifiers: chr14:g.24729135C>A (hg19) chr14:g.24259929C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259929C>A , CM000676.2:g.24259929C>A GRCh38
NC_000014.8:g.24729135C>A , CM000676.1:g.24729135C>A GRCh37
NC_000014.7:g.23798975C>A NCBI36
NG_007150.1:g.8238G>T
NG_007150.2:g.8238G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.876+11G>T MANE Select ENSP00000206765.6:n.876+11G>T
ENST00000206765.10:c.876+11G>T ENSP00000206765.6:n.876+11G>T
ENST00000544573.5:c.-28-1541G>T ENSP00000439446.1:n.-28-1541G>T
ENST00000559136.1:c.-52+11G>T ENSP00000453337.1:n.-52+11G>T
NM_000359.2:c.876+11G>T NP_000350.1:n.876+11G>T
NM_000359.3:c.876+11G>T MANE Select NP_000350.1:n.876+11G>T
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