Canonical Allele Identifier: CA352479167
Gene: TMIE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46705867G>C , CM000665.2:g.46705867G>C GRCh38
NC_000003.11:g.46747357G>C , CM000665.1:g.46747357G>C GRCh37
NC_000003.10:g.46722361G>C NCBI36
NG_011628.1:g.9535G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643606.3:c.171G>C MANE Select ENSP00000494576.2:p.Trp57Cys
ENST00000644830.1:c.12G>C ENSP00000495111.1:p.Trp4Cys
ENST00000651652.1:c.69G>C ENSP00000498953.1:p.Trp23Cys
ENST00000326431.3:c.171G>C ENSP00000324775.3:p.Trp57Cys
NM_147196.2:c.171G>C NP_671729.2:p.Trp57Cys
XM_006713097.2:c.12G>C XP_006713160.1:p.Trp4Cys
XM_011533574.1:c.12G>C XP_011531876.1:p.Trp4Cys
XM_006713097.4:c.12G>C XP_006713160.1:p.Trp4Cys
XM_024453446.1:c.12G>C XP_024309214.1:p.Trp4Cys
NM_001370524.1:c.12G>C NP_001357453.1:p.Trp4Cys
NM_001370525.1:c.12G>C NP_001357454.1:p.Trp4Cys
NM_147196.3:c.171G>C MANE Select NP_671729.2:p.Trp57Cys