Canonical Allele Identifier: CA408015340
Gene: TGM6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.2398093G>A (hg19) chr20:g.2417447G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2417447G>A , CM000682.2:g.2417447G>A GRCh38
NC_000020.10:g.2398093G>A , CM000682.1:g.2398093G>A GRCh37
NC_000020.9:g.2346093G>A NCBI36
NG_031917.1:g.41540G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000202625.7:c.1552G>A MANE Select ENSP00000202625.2:p.Ala518Thr
ENST00000202625.6:c.1552G>A ENSP00000202625.2:p.Ala518Thr
ENST00000381423.1:c.1552G>A ENSP00000370831.1:p.Ala518Thr
NM_001254734.1:c.1552G>A NP_001241663.1:p.Ala518Thr
NM_198994.2:c.1552G>A NP_945345.2:p.Ala518Thr
NM_001254734.2:c.1552G>A NP_001241663.1:p.Ala518Thr
NM_198994.3:c.1552G>A MANE Select NP_945345.2:p.Ala518Thr
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