Canonical Allele Identifier: CA7131461
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs775497132
ExAC: 14:24731194 A / G
gnomAD v2: 14-24731194-A-G
gnomAD v4: 14-24261988-A-G
MyVariant Identifiers: chr14:g.24731194A>G (hg19) chr14:g.24261988A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261988A>G , CM000676.2:g.24261988A>G GRCh38
NC_000014.8:g.24731194A>G , CM000676.1:g.24731194A>G GRCh37
NC_000014.7:g.23801034A>G NCBI36
NG_007150.1:g.6179T>C
NG_007150.2:g.6179T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.319+46T>C MANE Select ENSP00000206765.6:n.319+46T>C
ENST00000206765.10:c.319+46T>C ENSP00000206765.6:n.319+46T>C
ENST00000544573.5:c.-29+139T>C ENSP00000439446.1:n.-29+139T>C
ENST00000558074.1:c.319+46T>C ENSP00000453840.1:n.319+46T>C
NM_000359.2:c.319+46T>C NP_000350.1:n.319+46T>C
NM_000359.3:c.319+46T>C MANE Select NP_000350.1:n.319+46T>C
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