Canonical Allele Identifier: CA252748

Gene: TMIE

Linked Data

• ClinVar Variation Id: 3394
• ClinVar RCV Id: RCV000003561
• dbSNP Id: rs267607120
• gnomAD v4: 3-46705866-G-A
• MyVariant Identifiers: chr3:g.46747356G>A (hg19) ; chr3:g.46705866G>A (hg38)
• PubMed: PMID:19438934

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705866G>A , CM000665.2:g.46705866G>A	GRCh38
NC_000003.11:g.46747356G>A , CM000665.1:g.46747356G>A	GRCh37
NC_000003.10:g.46722360G>A	NCBI36
NG_011628.1:g.9534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.170G>A MANE Select	ENSP00000494576.2:p.Trp57Ter
ENST00000644830.1:c.11G>A	ENSP00000495111.1:p.Trp4Ter
ENST00000651652.1:c.68G>A	ENSP00000498953.1:p.Trp23Ter
ENST00000326431.3:c.170G>A	ENSP00000324775.3:p.Trp57Ter
NM_147196.2:c.170G>A	NP_671729.2:p.Trp57Ter
XM_006713097.2:c.11G>A	XP_006713160.1:p.Trp4Ter
XM_011533574.1:c.11G>A	XP_011531876.1:p.Trp4Ter
XM_006713097.4:c.11G>A	XP_006713160.1:p.Trp4Ter
XM_024453446.1:c.11G>A	XP_024309214.1:p.Trp4Ter
NM_001370524.1:c.11G>A	NP_001357453.1:p.Trp4Ter
NM_001370525.1:c.11G>A	NP_001357454.1:p.Trp4Ter
NM_147196.3:c.170G>A MANE Select	NP_671729.2:p.Trp57Ter