Canonical Allele Identifier: CA2123832056
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs2040746342
gnomAD v3: 14-24255879-G-A
gnomAD v4: 14-24255879-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255879G>A , CM000676.2:g.24255879G>A GRCh38
NC_000014.8:g.24725085G>A , CM000676.1:g.24725085G>A GRCh37
NC_000014.7:g.23794925G>A NCBI36
NG_007150.1:g.12288C>T
NG_007150.2:g.12288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491+110C>T MANE Select ENSP00000206765.6:n.1491+110C>T
ENST00000206765.10:c.1491+110C>T ENSP00000206765.6:n.1491+110C>T
ENST00000544573.5:c.165+110C>T ENSP00000439446.1:n.165+110C>T
ENST00000559136.1:c.564+110C>T ENSP00000453337.1:n.564+110C>T
NM_000359.2:c.1491+110C>T NP_000350.1:n.1491+110C>T
NM_000359.3:c.1491+110C>T MANE Select NP_000350.1:n.1491+110C>T
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