Canonical Allele Identifier: CA7131227
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs774987995
ExAC: 14:24728929 G / C
gnomAD v2: 14-24728929-G-C
gnomAD v4: 14-24259723-G-C
MyVariant Identifiers: chr14:g.24728929G>C (hg19) chr14:g.24259723G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259723G>C , CM000676.2:g.24259723G>C GRCh38
NC_000014.8:g.24728929G>C , CM000676.1:g.24728929G>C GRCh37
NC_000014.7:g.23798769G>C NCBI36
NG_007150.1:g.8444C>G
NG_007150.2:g.8444C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.965C>G MANE Select ENSP00000206765.6:p.Ser322Cys
ENST00000206765.10:c.965C>G ENSP00000206765.6:p.Ser322Cys
ENST00000544573.5:c.-28-1335C>G ENSP00000439446.1:n.-28-1335C>G
ENST00000559136.1:c.38C>G ENSP00000453337.1:p.Ser13Cys
NM_000359.2:c.965C>G NP_000350.1:p.Ser322Cys
NM_000359.3:c.965C>G MANE Select NP_000350.1:p.Ser322Cys
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