Canonical Allele Identifier: CA2624346173
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24258948-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24258948C>A , CM000676.2:g.24258948C>A GRCh38
NC_000014.8:g.24728154C>A , CM000676.1:g.24728154C>A GRCh37
NC_000014.7:g.23797994C>A NCBI36
NG_007150.1:g.9219G>T
NG_007150.2:g.9219G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.1159+127G>T MANE Select ENSP00000206765.6:n.1159+127G>T
ENST00000206765.10:c.1159+127G>T ENSP00000206765.6:n.1159+127G>T
ENST00000544573.5:c.-28-560G>T ENSP00000439446.1:n.-28-560G>T
ENST00000559136.1:c.232+127G>T ENSP00000453337.1:n.232+127G>T
NM_000359.2:c.1159+127G>T NP_000350.1:n.1159+127G>T
NM_000359.3:c.1159+127G>T MANE Select NP_000350.1:n.1159+127G>T
Search 100 bp 5'
Search 100 bp 3'