Canonical Allele Identifier: CA433458637
Gene: TMIE HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.46747312T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46705822T>C , CM000665.2:g.46705822T>C GRCh38
NC_000003.11:g.46747312T>C , CM000665.1:g.46747312T>C GRCh37
NC_000003.10:g.46722316T>C NCBI36
NG_011628.1:g.9490T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643606.3:c.126T>C MANE Select ENSP00000494576.2:p.Pro42=
ENST00000644830.1:c.-34T>C ENSP00000495111.1:n.-34T>C
ENST00000651652.1:c.24T>C ENSP00000498953.1:p.Pro8=
ENST00000326431.3:c.126T>C ENSP00000324775.3:p.Pro42=
NM_147196.2:c.126T>C NP_671729.2:p.Pro42=
XM_006713097.2:c.-34T>C XP_006713160.1:n.-34T>C
XM_011533574.1:c.-34T>C XP_011531876.1:n.-34T>C
XM_006713097.4:c.-34T>C XP_006713160.1:n.-34T>C
XM_024453446.1:c.-34T>C XP_024309214.1:n.-34T>C
NM_001370524.1:c.-34T>C NP_001357453.1:n.-34T>C
NM_001370525.1:c.-34T>C NP_001357454.1:n.-34T>C
NM_147196.3:c.126T>C MANE Select NP_671729.2:p.Pro42=