Canonical Allele Identifier: CA257893813
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs979636088
gnomAD v2: 14-24725241-T-C
gnomAD v3: 14-24256035-T-C
gnomAD v4: 14-24256035-T-C
MyVariant Identifiers: chr14:g.24725241T>C (hg19) chr14:g.24256035T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256035T>C , CM000676.2:g.24256035T>C GRCh38
NC_000014.8:g.24725241T>C , CM000676.1:g.24725241T>C GRCh37
NC_000014.7:g.23795081T>C NCBI36
NG_007150.1:g.12132A>G
NG_007150.2:g.12132A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1445A>G MANE Select ENSP00000206765.6:p.Asn482Ser
ENST00000206765.10:c.1445A>G ENSP00000206765.6:p.Asn482Ser
ENST00000544573.5:c.119A>G ENSP00000439446.1:p.Asn40Ser
ENST00000559136.1:c.518A>G ENSP00000453337.1:p.Asn173Ser
NM_000359.2:c.1445A>G NP_000350.1:p.Asn482Ser
NM_000359.3:c.1445A>G MANE Select NP_000350.1:p.Asn482Ser
Search 100 bp 5'
Search 100 bp 3'