Canonical Allele Identifier: CA389255753

Gene: TGM1

Linked Data

• MyVariant Identifiers: chr14:g.24725206T>A (hg19) ; chr14:g.24256000T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24256000T>A , CM000676.2:g.24256000T>A	GRCh38
NC_000014.8:g.24725206T>A , CM000676.1:g.24725206T>A	GRCh37
NC_000014.7:g.23795046T>A	NCBI36
NG_007150.1:g.12167A>T
NG_007150.2:g.12167A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1480A>T MANE Select	ENSP00000206765.6:p.Ile494Phe
ENST00000206765.10:c.1480A>T	ENSP00000206765.6:p.Ile494Phe
ENST00000544573.5:c.154A>T	ENSP00000439446.1:p.Ile52Phe
ENST00000559136.1:c.553A>T	ENSP00000453337.1:p.Ile185Phe
NM_000359.2:c.1480A>T	NP_000350.1:p.Ile494Phe
NM_000359.3:c.1480A>T MANE Select	NP_000350.1:p.Ile494Phe