Canonical Allele Identifier: CA352479154

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46747353T>G (hg19) ; chr3:g.46705863T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705863T>G , CM000665.2:g.46705863T>G	GRCh38
NC_000003.11:g.46747353T>G , CM000665.1:g.46747353T>G	GRCh37
NC_000003.10:g.46722357T>G	NCBI36
NG_011628.1:g.9531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.167T>G MANE Select	ENSP00000494576.2:p.Leu56Arg
ENST00000644830.1:c.8T>G	ENSP00000495111.1:p.Leu3Arg
ENST00000651652.1:c.65T>G	ENSP00000498953.1:p.Leu22Arg
ENST00000326431.3:c.167T>G	ENSP00000324775.3:p.Leu56Arg
NM_147196.2:c.167T>G	NP_671729.2:p.Leu56Arg
XM_006713097.2:c.8T>G	XP_006713160.1:p.Leu3Arg
XM_011533574.1:c.8T>G	XP_011531876.1:p.Leu3Arg
XM_006713097.4:c.8T>G	XP_006713160.1:p.Leu3Arg
XM_024453446.1:c.8T>G	XP_024309214.1:p.Leu3Arg
NM_001370524.1:c.8T>G	NP_001357453.1:p.Leu3Arg
NM_001370525.1:c.8T>G	NP_001357454.1:p.Leu3Arg
NM_147196.3:c.167T>G MANE Select	NP_671729.2:p.Leu56Arg