Canonical Allele Identifier: CA392100826

Gene: TGM5

Linked Data

• MyVariant Identifiers: chr15:g.43545752A>C (hg19) ; chr15:g.43253554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253554A>C , CM000677.2:g.43253554A>C	GRCh38
NC_000015.9:g.43545752A>C , CM000677.1:g.43545752A>C	GRCh37
NC_000015.8:g.41333044A>C	NCBI36
NG_016124.1:g.18304T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.636T>G MANE Select	ENSP00000220420.5:p.Cys212Trp
ENST00000635871.1:n.105T>G
ENST00000220420.9:c.636T>G	ENSP00000220420.5:p.Cys212Trp
ENST00000349114.8:c.390T>G	ENSP00000220419.8:p.Cys130Trp
ENST00000610827.4:c.633T>G	ENSP00000479732.1:p.Cys211Trp
ENST00000611276.4:c.387T>G	ENSP00000482542.1:p.Cys129Trp
ENST00000622115.1:c.639T>G	ENSP00000479638.1:p.Cys213Trp
NM_004245.3:c.390T>G	NP_004236.1:p.Cys130Trp
NM_201631.3:c.636T>G	NP_963925.2:p.Cys212Trp
XM_011522229.1:c.636T>G	XP_011520531.1:p.Cys212Trp
XR_931948.1:n.810T>G
NM_004245.4:c.390T>G	NP_004236.1:p.Cys130Trp
NM_201631.4:c.636T>G MANE Select	NP_963925.2:p.Cys212Trp