Canonical Allele Identifier: CA257901353
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs2855103
gnomAD v4: 14-24261692-G-C
MyVariant Identifiers: chr14:g.24730898G>C (hg19) chr14:g.24261692G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261692G>C , CM000676.2:g.24261692G>C GRCh38
NC_000014.8:g.24730898G>C , CM000676.1:g.24730898G>C GRCh37
NC_000014.7:g.23800738G>C NCBI36
NG_007150.1:g.6475C>G
NG_007150.2:g.6475C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.508+3C>G MANE Select ENSP00000206765.6:n.508+3C>G
ENST00000206765.10:c.508+3C>G ENSP00000206765.6:n.508+3C>G
ENST00000544573.5:c.-29+435C>G ENSP00000439446.1:n.-29+435C>G
NM_000359.2:c.508+3C>G NP_000350.1:n.508+3C>G
NM_000359.3:c.508+3C>G MANE Select NP_000350.1:n.508+3C>G
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