Canonical Allele Identifier: CA392098799

Gene: TGM5

Linked Data

• dbSNP Id: rs1241392126
• gnomAD v3: 15-43252759-C-T
• gnomAD v4: 15-43252759-C-T
• MyVariant Identifiers: chr15:g.43544957C>T (hg19) ; chr15:g.43252759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252759C>T , CM000677.2:g.43252759C>T	GRCh38
NC_000015.9:g.43544957C>T , CM000677.1:g.43544957C>T	GRCh37
NC_000015.8:g.41332249C>T	NCBI36
NG_016124.1:g.19099G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.862G>A MANE Select	ENSP00000220420.5:p.Val288Met
ENST00000635871.1:n.331G>A
ENST00000220420.9:c.862G>A	ENSP00000220420.5:p.Val288Met
ENST00000349114.8:c.616G>A	ENSP00000220419.8:p.Val206Met
ENST00000610827.4:c.859G>A	ENSP00000479732.1:p.Val287Met
ENST00000611276.4:c.613G>A	ENSP00000482542.1:p.Val205Met
ENST00000622115.1:c.865G>A	ENSP00000479638.1:p.Val289Met
NM_004245.3:c.616G>A	NP_004236.1:p.Val206Met
NM_201631.3:c.862G>A	NP_963925.2:p.Val288Met
XM_011522229.1:c.862G>A	XP_011520531.1:p.Val288Met
XR_931948.1:n.1036G>A
NM_004245.4:c.616G>A	NP_004236.1:p.Val206Met
NM_201631.4:c.862G>A MANE Select	NP_963925.2:p.Val288Met