Canonical Allele Identifier: CA392098863

Gene: TGM5

Linked Data

• gnomAD v4: 15-43252771-C-G
• MyVariant Identifiers: chr15:g.43544969C>G (hg19) ; chr15:g.43252771C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252771C>G , CM000677.2:g.43252771C>G	GRCh38
NC_000015.9:g.43544969C>G , CM000677.1:g.43544969C>G	GRCh37
NC_000015.8:g.41332261C>G	NCBI36
NG_016124.1:g.19087G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.850G>C MANE Select	ENSP00000220420.5:p.Val284Leu
ENST00000635871.1:n.319G>C
ENST00000220420.9:c.850G>C	ENSP00000220420.5:p.Val284Leu
ENST00000349114.8:c.604G>C	ENSP00000220419.8:p.Val202Leu
ENST00000610827.4:c.847G>C	ENSP00000479732.1:p.Val283Leu
ENST00000611276.4:c.601G>C	ENSP00000482542.1:p.Val201Leu
ENST00000622115.1:c.853G>C	ENSP00000479638.1:p.Val285Leu
NM_004245.3:c.604G>C	NP_004236.1:p.Val202Leu
NM_201631.3:c.850G>C	NP_963925.2:p.Val284Leu
XM_011522229.1:c.850G>C	XP_011520531.1:p.Val284Leu
XR_931948.1:n.1024G>C
NM_004245.4:c.604G>C	NP_004236.1:p.Val202Leu
NM_201631.4:c.850G>C MANE Select	NP_963925.2:p.Val284Leu