Canonical Allele Identifier: CA352479255

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46747380T>A (hg19) ; chr3:g.46705890T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705890T>A , CM000665.2:g.46705890T>A	GRCh38
NC_000003.11:g.46747380T>A , CM000665.1:g.46747380T>A	GRCh37
NC_000003.10:g.46722384T>A	NCBI36
NG_011628.1:g.9558T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.194T>A MANE Select	ENSP00000494576.2:p.Leu65His
ENST00000644830.1:c.35T>A	ENSP00000495111.1:p.Leu12His
ENST00000651652.1:c.92T>A	ENSP00000498953.1:p.Leu31His
ENST00000326431.3:c.194T>A	ENSP00000324775.3:p.Leu65His
NM_147196.2:c.194T>A	NP_671729.2:p.Leu65His
XM_006713097.2:c.35T>A	XP_006713160.1:p.Leu12His
XM_011533574.1:c.35T>A	XP_011531876.1:p.Leu12His
XM_006713097.4:c.35T>A	XP_006713160.1:p.Leu12His
XM_024453446.1:c.35T>A	XP_024309214.1:p.Leu12His
NM_001370524.1:c.35T>A	NP_001357453.1:p.Leu12His
NM_001370525.1:c.35T>A	NP_001357454.1:p.Leu12His
NM_147196.3:c.194T>A MANE Select	NP_671729.2:p.Leu65His