Canonical Allele Identifier: CA1362234556
Community Standard Title: NM_147196.3(TMIE):c.241C= (p.Arg81=)
Gene: TMIE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46709155C= , CM000665.2:g.46709155C= GRCh38
NC_000003.11:g.46750645C= , CM000665.1:g.46750645C= GRCh37
NC_000003.10:g.46725649C= NCBI36
NG_011628.1:g.12823C=

Transcript Alleles

HGVS Amino-acid Change
NM_147196.3:c.241C= MANE Select NP_671729.2:p.Arg81=
ENST00000643606.3:c.241C= MANE Select ENSP00000494576.2:p.Arg81=
NM_001370524.1:c.82C= NP_001357453.1:p.Arg28=
NM_001370525.1:c.82C= NP_001357454.1:p.Arg28=
NM_147196.2:c.241C= NP_671729.2:p.Arg81=
ENST00000326431.3:c.241C= ENSP00000324775.3:p.Arg81=
ENST00000644830.1:c.82C= ENSP00000495111.1:p.Arg28=
ENST00000651652.1:c.139C= ENSP00000498953.1:p.Arg47=
XM_006713097.2:c.82C= XP_006713160.1:p.Arg28=
XM_006713097.4:c.82C= XP_006713160.1:p.Arg28=
XM_011533574.1:c.82C= XP_011531876.1:p.Arg28=
XM_024453446.1:c.82C= XP_024309214.1:p.Arg28=