Canonical Allele Identifier: CA257901321
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1051338464
gnomAD v2: 14-24730895-A-G
gnomAD v3: 14-24261689-A-G
gnomAD v4: 14-24261689-A-G
MyVariant Identifiers: chr14:g.24730895A>G (hg19) chr14:g.24261689A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261689A>G , CM000676.2:g.24261689A>G GRCh38
NC_000014.8:g.24730895A>G , CM000676.1:g.24730895A>G GRCh37
NC_000014.7:g.23800735A>G NCBI36
NG_007150.1:g.6478T>C
NG_007150.2:g.6478T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.508+6T>C MANE Select ENSP00000206765.6:n.508+6T>C
ENST00000206765.10:c.508+6T>C ENSP00000206765.6:n.508+6T>C
ENST00000544573.5:c.-29+438T>C ENSP00000439446.1:n.-29+438T>C
NM_000359.2:c.508+6T>C NP_000350.1:n.508+6T>C
NM_000359.3:c.508+6T>C MANE Select NP_000350.1:n.508+6T>C
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