Canonical Allele Identifier: CA352479237

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46747375T>A (hg19) ; chr3:g.46705885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705885T>A , CM000665.2:g.46705885T>A	GRCh38
NC_000003.11:g.46747375T>A , CM000665.1:g.46747375T>A	GRCh37
NC_000003.10:g.46722379T>A	NCBI36
NG_011628.1:g.9553T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.189T>A MANE Select	ENSP00000494576.2:p.Phe63Leu
ENST00000644830.1:c.30T>A	ENSP00000495111.1:p.Phe10Leu
ENST00000651652.1:c.87T>A	ENSP00000498953.1:p.Phe29Leu
ENST00000326431.3:c.189T>A	ENSP00000324775.3:p.Phe63Leu
NM_147196.2:c.189T>A	NP_671729.2:p.Phe63Leu
XM_006713097.2:c.30T>A	XP_006713160.1:p.Phe10Leu
XM_011533574.1:c.30T>A	XP_011531876.1:p.Phe10Leu
XM_006713097.4:c.30T>A	XP_006713160.1:p.Phe10Leu
XM_024453446.1:c.30T>A	XP_024309214.1:p.Phe10Leu
NM_001370524.1:c.30T>A	NP_001357453.1:p.Phe10Leu
NM_001370525.1:c.30T>A	NP_001357454.1:p.Phe10Leu
NM_147196.3:c.189T>A MANE Select	NP_671729.2:p.Phe63Leu