Canonical Allele Identifier: CA634327250
Gene: TGM6 HGNC NCBI

Linked Data

dbSNP Id: rs1327764401
gnomAD v2: 20-2375090-C-T
gnomAD v3: 20-2394444-C-T
gnomAD v4: 20-2394444-C-T
MyVariant Identifiers: chr20:g.2375090C>T (hg19) chr20:g.2394444C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2394444C>T , CM000682.2:g.2394444C>T GRCh38
NC_000020.10:g.2375090C>T , CM000682.1:g.2375090C>T GRCh37
NC_000020.9:g.2323090C>T NCBI36
NG_031917.1:g.18537C>T

Transcript Alleles

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