Canonical Allele Identifier: CA7521187

Gene: TGM5

Linked Data

• dbSNP Id: rs762688161
• ExAC: 15:43544964 C / T
• gnomAD v2: 15-43544964-C-T
• gnomAD v3: 15-43252766-C-T
• gnomAD v4: 15-43252766-C-T
• COSMIC: COSM1493439
• MyVariant Identifiers: chr15:g.43544964C>T (hg19) ; chr15:g.43252766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252766C>T , CM000677.2:g.43252766C>T	GRCh38
NC_000015.9:g.43544964C>T , CM000677.1:g.43544964C>T	GRCh37
NC_000015.8:g.41332256C>T	NCBI36
NG_016124.1:g.19092G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.855G>A MANE Select	ENSP00000220420.5:p.Met285Ile
ENST00000635871.1:n.324G>A
ENST00000220420.9:c.855G>A	ENSP00000220420.5:p.Met285Ile
ENST00000349114.8:c.609G>A	ENSP00000220419.8:p.Met203Ile
ENST00000610827.4:c.852G>A	ENSP00000479732.1:p.Met284Ile
ENST00000611276.4:c.606G>A	ENSP00000482542.1:p.Met202Ile
ENST00000622115.1:c.858G>A	ENSP00000479638.1:p.Met286Ile
NM_004245.3:c.609G>A	NP_004236.1:p.Met203Ile
NM_201631.3:c.855G>A	NP_963925.2:p.Met285Ile
XM_011522229.1:c.855G>A	XP_011520531.1:p.Met285Ile
XR_931948.1:n.1029G>A
NM_004245.4:c.609G>A	NP_004236.1:p.Met203Ile
NM_201631.4:c.855G>A MANE Select	NP_963925.2:p.Met285Ile