Canonical Allele Identifier: CA352479060

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46747327G>T (hg19) ; chr3:g.46705837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705837G>T , CM000665.2:g.46705837G>T	GRCh38
NC_000003.11:g.46747327G>T , CM000665.1:g.46747327G>T	GRCh37
NC_000003.10:g.46722331G>T	NCBI36
NG_011628.1:g.9505G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.141G>T MANE Select	ENSP00000494576.2:p.Glu47Asp
ENST00000644830.1:c.-19G>T	ENSP00000495111.1:n.-19G>T
ENST00000651652.1:c.39G>T	ENSP00000498953.1:p.Glu13Asp
ENST00000326431.3:c.141G>T	ENSP00000324775.3:p.Glu47Asp
NM_147196.2:c.141G>T	NP_671729.2:p.Glu47Asp
XM_006713097.2:c.-19G>T	XP_006713160.1:n.-19G>T
XM_011533574.1:c.-19G>T	XP_011531876.1:n.-19G>T
XM_006713097.4:c.-19G>T	XP_006713160.1:n.-19G>T
XM_024453446.1:c.-19G>T	XP_024309214.1:n.-19G>T
NM_001370524.1:c.-19G>T	NP_001357453.1:n.-19G>T
NM_001370525.1:c.-19G>T	NP_001357454.1:n.-19G>T
NM_147196.3:c.141G>T MANE Select	NP_671729.2:p.Glu47Asp