Canonical Allele Identifier: CA634327248
Gene: TGM6 HGNC NCBI

Linked Data

dbSNP Id: rs750340581
gnomAD v2: 20-2375084-C-A
gnomAD v3: 20-2394438-C-A
gnomAD v4: 20-2394438-C-A
MyVariant Identifiers: chr20:g.2375084C>A (hg19) chr20:g.2394438C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2394438C>A , CM000682.2:g.2394438C>A GRCh38
NC_000020.10:g.2375084C>A , CM000682.1:g.2375084C>A GRCh37
NC_000020.9:g.2323084C>A NCBI36
NG_031917.1:g.18531C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000202625.7:c.8-14C>A MANE Select ENSP00000202625.2:n.8-14C>A
ENST00000202625.6:c.8-14C>A ENSP00000202625.2:n.8-14C>A
ENST00000381423.1:c.8-14C>A ENSP00000370831.1:n.8-14C>A
NM_001254734.1:c.8-14C>A NP_001241663.1:n.8-14C>A
NM_198994.2:c.8-14C>A NP_945345.2:n.8-14C>A
NM_001254734.2:c.8-14C>A NP_001241663.1:n.8-14C>A
NM_198994.3:c.8-14C>A MANE Select NP_945345.2:n.8-14C>A
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