Canonical Allele Identifier: CA392100845

Gene: TGM5

Linked Data

• COSMIC: COSM6390548
• MyVariant Identifiers: chr15:g.43545753C>A (hg19) ; chr15:g.43253555C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43253555C>A , CM000677.2:g.43253555C>A	GRCh38
NC_000015.9:g.43545753C>A , CM000677.1:g.43545753C>A	GRCh37
NC_000015.8:g.41333045C>A	NCBI36
NG_016124.1:g.18303G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000220420.10:c.635G>T MANE Select	ENSP00000220420.5:p.Cys212Phe
ENST00000635871.1:n.104G>T
ENST00000220420.9:c.635G>T	ENSP00000220420.5:p.Cys212Phe
ENST00000349114.8:c.389G>T	ENSP00000220419.8:p.Cys130Phe
ENST00000610827.4:c.632G>T	ENSP00000479732.1:p.Cys211Phe
ENST00000611276.4:c.386G>T	ENSP00000482542.1:p.Cys129Phe
ENST00000622115.1:c.638G>T	ENSP00000479638.1:p.Cys213Phe
NM_004245.3:c.389G>T	NP_004236.1:p.Cys130Phe
NM_201631.3:c.635G>T	NP_963925.2:p.Cys212Phe
XM_011522229.1:c.635G>T	XP_011520531.1:p.Cys212Phe
XR_931948.1:n.809G>T
NM_004245.4:c.389G>T	NP_004236.1:p.Cys130Phe
NM_201631.4:c.635G>T MANE Select	NP_963925.2:p.Cys212Phe