Canonical Allele Identifier: CA485664456
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs121918731
gnomAD v2: 14-24728975-G-T
gnomAD v4: 14-24259769-G-T
MyVariant Identifiers: chr14:g.24728975G>T (hg19) chr14:g.24259769G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259769G>T , CM000676.2:g.24259769G>T GRCh38
NC_000014.8:g.24728975G>T , CM000676.1:g.24728975G>T GRCh37
NC_000014.7:g.23798815G>T NCBI36
NG_007150.1:g.8398C>A
NG_007150.2:g.8398C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.919C>A MANE Select ENSP00000206765.6:p.Arg307=
ENST00000206765.10:c.919C>A ENSP00000206765.6:p.Arg307=
ENST00000544573.5:c.-28-1381C>A ENSP00000439446.1:n.-28-1381C>A
ENST00000559136.1:c.-9C>A ENSP00000453337.1:n.-9C>A
NM_000359.2:c.919C>A NP_000350.1:p.Arg307=
NM_000359.3:c.919C>A MANE Select NP_000350.1:p.Arg307=
Search 100 bp 5'
Search 100 bp 3'