Canonical Allele Identifier: CA2506560140
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24255916-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255916C>A , CM000676.2:g.24255916C>A GRCh38
NC_000014.8:g.24725122C>A , CM000676.1:g.24725122C>A GRCh37
NC_000014.7:g.23794962C>A NCBI36
NG_007150.1:g.12251G>T
NG_007150.2:g.12251G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491+73G>T MANE Select ENSP00000206765.6:n.1491+73G>T
ENST00000206765.10:c.1491+73G>T ENSP00000206765.6:n.1491+73G>T
ENST00000544573.5:c.165+73G>T ENSP00000439446.1:n.165+73G>T
ENST00000559136.1:c.564+73G>T ENSP00000453337.1:n.564+73G>T
NM_000359.2:c.1491+73G>T NP_000350.1:n.1491+73G>T
NM_000359.3:c.1491+73G>T MANE Select NP_000350.1:n.1491+73G>T
Search 100 bp 5'
Search 100 bp 3'