Canonical Allele Identifier: CA2123832221
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs2040747023
gnomAD v4: 14-24255952-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255952C>G , CM000676.2:g.24255952C>G GRCh38
NC_000014.8:g.24725158C>G , CM000676.1:g.24725158C>G GRCh37
NC_000014.7:g.23794998C>G NCBI36
NG_007150.1:g.12215G>C
NG_007150.2:g.12215G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491+37G>C MANE Select ENSP00000206765.6:n.1491+37G>C
ENST00000206765.10:c.1491+37G>C ENSP00000206765.6:n.1491+37G>C
ENST00000544573.5:c.165+37G>C ENSP00000439446.1:n.165+37G>C
ENST00000559136.1:c.564+37G>C ENSP00000453337.1:n.564+37G>C
NM_000359.2:c.1491+37G>C NP_000350.1:n.1491+37G>C
NM_000359.3:c.1491+37G>C MANE Select NP_000350.1:n.1491+37G>C
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