Canonical Allele Identifier: CA7521209

Gene: TGM5

Linked Data

• dbSNP Id: rs201451548
• ExAC: 15:43545044 C / T
• gnomAD v2: 15-43545044-C-T
• gnomAD v3: 15-43252846-C-T
• gnomAD v4: 15-43252846-C-T
• MyVariant Identifiers: chr15:g.43545044C>T (hg19) ; chr15:g.43252846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252846C>T , CM000677.2:g.43252846C>T	GRCh38
NC_000015.9:g.43545044C>T , CM000677.1:g.43545044C>T	GRCh37
NC_000015.8:g.41332336C>T	NCBI36
NG_016124.1:g.19012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.775G>A MANE Select	ENSP00000220420.5:p.Val259Met
ENST00000635871.1:n.244G>A
ENST00000220420.9:c.775G>A	ENSP00000220420.5:p.Val259Met
ENST00000349114.8:c.529G>A	ENSP00000220419.8:p.Val177Met
ENST00000610827.4:c.772G>A	ENSP00000479732.1:p.Val258Met
ENST00000611276.4:c.526G>A	ENSP00000482542.1:p.Val176Met
ENST00000622115.1:c.778G>A	ENSP00000479638.1:p.Val260Met
NM_004245.3:c.529G>A	NP_004236.1:p.Val177Met
NM_201631.3:c.775G>A	NP_963925.2:p.Val259Met
XM_011522229.1:c.775G>A	XP_011520531.1:p.Val259Met
XR_931948.1:n.949G>A
NM_004245.4:c.529G>A	NP_004236.1:p.Val177Met
NM_201631.4:c.775G>A MANE Select	NP_963925.2:p.Val259Met