Canonical Allele Identifier: CA490131731
Gene: TGM5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.43545755G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43253557G>A , CM000677.2:g.43253557G>A GRCh38
NC_000015.9:g.43545755G>A , CM000677.1:g.43545755G>A GRCh37
NC_000015.8:g.41333047G>A NCBI36
NG_016124.1:g.18301C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000220420.10:c.633C>T MANE Select ENSP00000220420.5:p.Asp211=
ENST00000635871.1:n.102C>T
ENST00000220420.9:c.633C>T ENSP00000220420.5:p.Asp211=
ENST00000349114.8:c.387C>T ENSP00000220419.8:p.Asp129=
ENST00000610827.4:c.630C>T ENSP00000479732.1:p.Asp210=
ENST00000611276.4:c.384C>T ENSP00000482542.1:p.Asp128=
ENST00000622115.1:c.636C>T ENSP00000479638.1:p.Asp212=
NM_004245.3:c.387C>T NP_004236.1:p.Asp129=
NM_201631.3:c.633C>T NP_963925.2:p.Asp211=
XM_011522229.1:c.633C>T XP_011520531.1:p.Asp211=
XR_931948.1:n.807C>T
NM_004245.4:c.387C>T NP_004236.1:p.Asp129=
NM_201631.4:c.633C>T MANE Select NP_963925.2:p.Asp211=