Canonical Allele Identifier: CA7521188

Gene: TGM5

Linked Data

• ClinVar Variation Id: 2369384
• ClinVar RCV Id: RCV003001204
• dbSNP Id: rs766081368
• ExAC: 15:43544965 A / G
• gnomAD v2: 15-43544965-A-G
• gnomAD v4: 15-43252767-A-G
• MyVariant Identifiers: chr15:g.43544965A>G (hg19) ; chr15:g.43252767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252767A>G , CM000677.2:g.43252767A>G	GRCh38
NC_000015.9:g.43544965A>G , CM000677.1:g.43544965A>G	GRCh37
NC_000015.8:g.41332257A>G	NCBI36
NG_016124.1:g.19091T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.854T>C MANE Select	ENSP00000220420.5:p.Met285Thr
ENST00000635871.1:n.323T>C
ENST00000220420.9:c.854T>C	ENSP00000220420.5:p.Met285Thr
ENST00000349114.8:c.608T>C	ENSP00000220419.8:p.Met203Thr
ENST00000610827.4:c.851T>C	ENSP00000479732.1:p.Met284Thr
ENST00000611276.4:c.605T>C	ENSP00000482542.1:p.Met202Thr
ENST00000622115.1:c.857T>C	ENSP00000479638.1:p.Met286Thr
NM_004245.3:c.608T>C	NP_004236.1:p.Met203Thr
NM_201631.3:c.854T>C	NP_963925.2:p.Met285Thr
XM_011522229.1:c.854T>C	XP_011520531.1:p.Met285Thr
XR_931948.1:n.1028T>C
NM_004245.4:c.608T>C	NP_004236.1:p.Met203Thr
NM_201631.4:c.854T>C MANE Select	NP_963925.2:p.Met285Thr