Canonical Allele Identifier: CA389256410
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24725242T>A (hg19) chr14:g.24256036T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256036T>A , CM000676.2:g.24256036T>A GRCh38
NC_000014.8:g.24725242T>A , CM000676.1:g.24725242T>A GRCh37
NC_000014.7:g.23795082T>A NCBI36
NG_007150.1:g.12131A>T
NG_007150.2:g.12131A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1444A>T MANE Select ENSP00000206765.6:p.Asn482Tyr
ENST00000206765.10:c.1444A>T ENSP00000206765.6:p.Asn482Tyr
ENST00000544573.5:c.118A>T ENSP00000439446.1:p.Asn40Tyr
ENST00000559136.1:c.517A>T ENSP00000453337.1:p.Asn173Tyr
NM_000359.2:c.1444A>T NP_000350.1:p.Asn482Tyr
NM_000359.3:c.1444A>T MANE Select NP_000350.1:p.Asn482Tyr
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