Canonical Allele Identifier: CA408015141
Gene: TGM6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.2398001T>A (hg19) chr20:g.2417355T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.2417355T>A , CM000682.2:g.2417355T>A GRCh38
NC_000020.10:g.2398001T>A , CM000682.1:g.2398001T>A GRCh37
NC_000020.9:g.2346001T>A NCBI36
NG_031917.1:g.41448T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000202625.7:c.1460T>A MANE Select ENSP00000202625.2:p.Leu487Gln
ENST00000202625.6:c.1460T>A ENSP00000202625.2:p.Leu487Gln
ENST00000381423.1:c.1460T>A ENSP00000370831.1:p.Leu487Gln
NM_001254734.1:c.1460T>A NP_001241663.1:p.Leu487Gln
NM_198994.2:c.1460T>A NP_945345.2:p.Leu487Gln
NM_001254734.2:c.1460T>A NP_001241663.1:p.Leu487Gln
NM_198994.3:c.1460T>A MANE Select NP_945345.2:p.Leu487Gln
Search 100 bp 5'
Search 100 bp 3'