Canonical Allele Identifier: CA408015341
Gene: TGM6 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000202625.7:c.1552G>C MANE Select ENSP00000202625.2:p.Ala518Pro
ENST00000202625.6:c.1552G>C ENSP00000202625.2:p.Ala518Pro
ENST00000381423.1:c.1552G>C ENSP00000370831.1:p.Ala518Pro
NM_001254734.1:c.1552G>C NP_001241663.1:p.Ala518Pro
NM_198994.2:c.1552G>C NP_945345.2:p.Ala518Pro
NM_001254734.2:c.1552G>C NP_001241663.1:p.Ala518Pro
NM_198994.3:c.1552G>C MANE Select NP_945345.2:p.Ala518Pro
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