Canonical Allele Identifier: CA408015304

Gene: TGM6

Linked Data

• MyVariant Identifiers: chr20:g.2398073T>G (hg19) ; chr20:g.2417427T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2417427T>G , CM000682.2:g.2417427T>G	GRCh38
NC_000020.10:g.2398073T>G , CM000682.1:g.2398073T>G	GRCh37
NC_000020.9:g.2346073T>G	NCBI36
NG_031917.1:g.41520T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202625.7:c.1532T>G MANE Select	ENSP00000202625.2:p.Leu511Arg
ENST00000202625.6:c.1532T>G	ENSP00000202625.2:p.Leu511Arg
ENST00000381423.1:c.1532T>G	ENSP00000370831.1:p.Leu511Arg
NM_001254734.1:c.1532T>G	NP_001241663.1:p.Leu511Arg
NM_198994.2:c.1532T>G	NP_945345.2:p.Leu511Arg
NM_001254734.2:c.1532T>G	NP_001241663.1:p.Leu511Arg
NM_198994.3:c.1532T>G MANE Select	NP_945345.2:p.Leu511Arg