Canonical Allele Identifier: CA392098930

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43544981C>G (hg19) ; chr15:g.43252783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252783C>G , CM000677.2:g.43252783C>G	GRCh38
NC_000015.9:g.43544981C>G , CM000677.1:g.43544981C>G	GRCh37
NC_000015.8:g.41332273C>G	NCBI36
NG_016124.1:g.19075G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.838G>C MANE Select	ENSP00000220420.5:p.Val280Leu
ENST00000635871.1:n.307G>C
ENST00000220420.9:c.838G>C	ENSP00000220420.5:p.Val280Leu
ENST00000349114.8:c.592G>C	ENSP00000220419.8:p.Val198Leu
ENST00000610827.4:c.835G>C	ENSP00000479732.1:p.Val279Leu
ENST00000611276.4:c.589G>C	ENSP00000482542.1:p.Val197Leu
ENST00000622115.1:c.841G>C	ENSP00000479638.1:p.Val281Leu
NM_004245.3:c.592G>C	NP_004236.1:p.Val198Leu
NM_201631.3:c.838G>C	NP_963925.2:p.Val280Leu
XM_011522229.1:c.838G>C	XP_011520531.1:p.Val280Leu
XR_931948.1:n.1012G>C
NM_004245.4:c.592G>C	NP_004236.1:p.Val198Leu
NM_201631.4:c.838G>C MANE Select	NP_963925.2:p.Val280Leu