Canonical Allele Identifier: CA408015415
Gene: TGM6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780746
ClinVar RCV Id: RCV003659585
MyVariant Identifiers: chr20:g.2398133T>A (hg19) chr20:g.2417487T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2417487T>A , CM000682.2:g.2417487T>A GRCh38
NC_000020.10:g.2398133T>A , CM000682.1:g.2398133T>A GRCh37
NC_000020.9:g.2346133T>A NCBI36
NG_031917.1:g.41580T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000202625.7:c.1592T>A MANE Select ENSP00000202625.2:p.Leu531Gln
ENST00000202625.6:c.1592T>A ENSP00000202625.2:p.Leu531Gln
ENST00000381423.1:c.1592T>A ENSP00000370831.1:p.Leu531Gln
NM_001254734.1:c.1592T>A NP_001241663.1:p.Leu531Gln
NM_198994.2:c.1592T>A NP_945345.2:p.Leu531Gln
NM_001254734.2:c.1592T>A NP_001241663.1:p.Leu531Gln
NM_198994.3:c.1592T>A MANE Select NP_945345.2:p.Leu531Gln
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