Canonical Allele Identifier: CA612959310
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1237470621
gnomAD v2: 14-24728639-G-A
gnomAD v3: 14-24259433-G-A
gnomAD v4: 14-24259433-G-A
MyVariant Identifiers: chr14:g.24728639G>A (hg19) chr14:g.24259433G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259433G>A , CM000676.2:g.24259433G>A GRCh38
NC_000014.8:g.24728639G>A , CM000676.1:g.24728639G>A GRCh37
NC_000014.7:g.23798479G>A NCBI36
NG_007150.1:g.8734C>T
NG_007150.2:g.8734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.985-184C>T MANE Select ENSP00000206765.6:n.985-184C>T
ENST00000206765.10:c.985-184C>T ENSP00000206765.6:n.985-184C>T
ENST00000544573.5:c.-28-1045C>T ENSP00000439446.1:n.-28-1045C>T
ENST00000559136.1:c.58-184C>T ENSP00000453337.1:n.58-184C>T
NM_000359.2:c.985-184C>T NP_000350.1:n.985-184C>T
NM_000359.3:c.985-184C>T MANE Select NP_000350.1:n.985-184C>T
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