Canonical Allele Identifier: CA7131221
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs755037776
ExAC: 14:24728884 G / A
gnomAD v2: 14-24728884-G-A
gnomAD v4: 14-24259678-G-A
MyVariant Identifiers: chr14:g.24728884G>A (hg19) chr14:g.24259678G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259678G>A , CM000676.2:g.24259678G>A GRCh38
NC_000014.8:g.24728884G>A , CM000676.1:g.24728884G>A GRCh37
NC_000014.7:g.23798724G>A NCBI36
NG_007150.1:g.8489C>T
NG_007150.2:g.8489C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.984+26C>T MANE Select ENSP00000206765.6:n.984+26C>T
ENST00000206765.10:c.984+26C>T ENSP00000206765.6:n.984+26C>T
ENST00000544573.5:c.-28-1290C>T ENSP00000439446.1:n.-28-1290C>T
ENST00000559136.1:c.57+26C>T ENSP00000453337.1:n.57+26C>T
NM_000359.2:c.984+26C>T NP_000350.1:n.984+26C>T
NM_000359.3:c.984+26C>T MANE Select NP_000350.1:n.984+26C>T
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