Canonical Allele Identifier: CA485663985
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24259196-G-A
MyVariant Identifiers: chr14:g.24728402G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259196G>A , CM000676.2:g.24259196G>A GRCh38
NC_000014.8:g.24728402G>A , CM000676.1:g.24728402G>A GRCh37
NC_000014.7:g.23798242G>A NCBI36
NG_007150.1:g.8971C>T
NG_007150.2:g.8971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1038C>T MANE Select ENSP00000206765.6:p.Tyr346=
ENST00000206765.10:c.1038C>T ENSP00000206765.6:p.Tyr346=
ENST00000544573.5:c.-28-808C>T ENSP00000439446.1:n.-28-808C>T
ENST00000559136.1:c.111C>T ENSP00000453337.1:p.Tyr37=
NM_000359.2:c.1038C>T NP_000350.1:p.Tyr346=
NM_000359.3:c.1038C>T MANE Select NP_000350.1:p.Tyr346=
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