Canonical Allele Identifier: CA392098848

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43544966T>G (hg19) ; chr15:g.43252768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252768T>G , CM000677.2:g.43252768T>G	GRCh38
NC_000015.9:g.43544966T>G , CM000677.1:g.43544966T>G	GRCh37
NC_000015.8:g.41332258T>G	NCBI36
NG_016124.1:g.19090A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.853A>C MANE Select	ENSP00000220420.5:p.Met285Leu
ENST00000635871.1:n.322A>C
ENST00000220420.9:c.853A>C	ENSP00000220420.5:p.Met285Leu
ENST00000349114.8:c.607A>C	ENSP00000220419.8:p.Met203Leu
ENST00000610827.4:c.850A>C	ENSP00000479732.1:p.Met284Leu
ENST00000611276.4:c.604A>C	ENSP00000482542.1:p.Met202Leu
ENST00000622115.1:c.856A>C	ENSP00000479638.1:p.Met286Leu
NM_004245.3:c.607A>C	NP_004236.1:p.Met203Leu
NM_201631.3:c.853A>C	NP_963925.2:p.Met285Leu
XM_011522229.1:c.853A>C	XP_011520531.1:p.Met285Leu
XR_931948.1:n.1027A>C
NM_004245.4:c.607A>C	NP_004236.1:p.Met203Leu
NM_201631.4:c.853A>C MANE Select	NP_963925.2:p.Met285Leu