Canonical Allele Identifier: CA392100835
Gene: TGM5 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000220420.10:c.635G>C MANE Select ENSP00000220420.5:p.Cys212Ser
ENST00000635871.1:n.104G>C
ENST00000220420.9:c.635G>C ENSP00000220420.5:p.Cys212Ser
ENST00000349114.8:c.389G>C ENSP00000220419.8:p.Cys130Ser
ENST00000610827.4:c.632G>C ENSP00000479732.1:p.Cys211Ser
ENST00000611276.4:c.386G>C ENSP00000482542.1:p.Cys129Ser
ENST00000622115.1:c.638G>C ENSP00000479638.1:p.Cys213Ser
NM_004245.3:c.389G>C NP_004236.1:p.Cys130Ser
NM_201631.3:c.635G>C NP_963925.2:p.Cys212Ser
XM_011522229.1:c.635G>C XP_011520531.1:p.Cys212Ser
XR_931948.1:n.809G>C
NM_004245.4:c.389G>C NP_004236.1:p.Cys130Ser
NM_201631.4:c.635G>C MANE Select NP_963925.2:p.Cys212Ser