Canonical Allele Identifier: CA509547621
Gene: TGM6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.2398095C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2417449C>A , CM000682.2:g.2417449C>A GRCh38
NC_000020.10:g.2398095C>A , CM000682.1:g.2398095C>A GRCh37
NC_000020.9:g.2346095C>A NCBI36
NG_031917.1:g.41542C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000202625.7:c.1554C>A MANE Select ENSP00000202625.2:p.Ala518=
ENST00000202625.6:c.1554C>A ENSP00000202625.2:p.Ala518=
ENST00000381423.1:c.1554C>A ENSP00000370831.1:p.Ala518=
NM_001254734.1:c.1554C>A NP_001241663.1:p.Ala518=
NM_198994.2:c.1554C>A NP_945345.2:p.Ala518=
NM_001254734.2:c.1554C>A NP_001241663.1:p.Ala518=
NM_198994.3:c.1554C>A MANE Select NP_945345.2:p.Ala518=