Canonical Allele Identifier: CA352480454

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46750625T>A (hg19) ; chr3:g.46709135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46709135T>A , CM000665.2:g.46709135T>A	GRCh38
NC_000003.11:g.46750625T>A , CM000665.1:g.46750625T>A	GRCh37
NC_000003.10:g.46725629T>A	NCBI36
NG_011628.1:g.12803T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.221T>A MANE Select	ENSP00000494576.2:p.Leu74Gln
ENST00000644830.1:c.62T>A	ENSP00000495111.1:p.Leu21Gln
ENST00000651652.1:c.119T>A	ENSP00000498953.1:p.Leu40Gln
ENST00000326431.3:c.221T>A	ENSP00000324775.3:p.Leu74Gln
NM_147196.2:c.221T>A	NP_671729.2:p.Leu74Gln
XM_006713097.2:c.62T>A	XP_006713160.1:p.Leu21Gln
XM_011533574.1:c.62T>A	XP_011531876.1:p.Leu21Gln
XM_006713097.4:c.62T>A	XP_006713160.1:p.Leu21Gln
XM_024453446.1:c.62T>A	XP_024309214.1:p.Leu21Gln
NM_001370524.1:c.62T>A	NP_001357453.1:p.Leu21Gln
NM_001370525.1:c.62T>A	NP_001357454.1:p.Leu21Gln
NM_147196.3:c.221T>A MANE Select	NP_671729.2:p.Leu74Gln