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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA256459
Gene: TGM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12481
ClinVar RCV Id:
RCV000013299
dbSNP Id:
rs121918719
gnomAD v2:
14-24730981-C-T
gnomAD v3:
14-24261775-C-T
gnomAD v4:
14-24261775-C-T
MyVariant Identifiers:
chr14:g.24730981C>T (hg19)
chr14:g.24261775C>T (hg38)
PubMed:
PMID:7773290
PMID:16968736
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.24261775C>T , CM000676.2:g.24261775C>T
GRCh38
NC_000014.8:g.24730981C>T , CM000676.1:g.24730981C>T
GRCh37
NC_000014.7:g.23800821C>T
NCBI36
NG_007150.1:g.6392G>A
NG_007150.2:g.6392G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000206765.11:c.428G>A
MANE Select
ENSP00000206765.6:p.Arg143His
ENST00000206765.10:c.428G>A
ENSP00000206765.6:p.Arg143His
ENST00000544573.5:c.-29+352G>A
ENSP00000439446.1:n.-29+352G>A
NM_000359.2:c.428G>A
NP_000350.1:p.Arg143His
NM_000359.3:c.428G>A
MANE Select
NP_000350.1:p.Arg143His
Search 100 bp 5'
Search 100 bp 3'