Canonical Allele Identifier: CA352480560

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46750643G>T (hg19) ; chr3:g.46709153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46709153G>T , CM000665.2:g.46709153G>T	GRCh38
NC_000003.11:g.46750643G>T , CM000665.1:g.46750643G>T	GRCh37
NC_000003.10:g.46725647G>T	NCBI36
NG_011628.1:g.12821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.239G>T MANE Select	ENSP00000494576.2:p.Cys80Phe
ENST00000644830.1:c.80G>T	ENSP00000495111.1:p.Cys27Phe
ENST00000651652.1:c.137G>T	ENSP00000498953.1:p.Cys46Phe
ENST00000326431.3:c.239G>T	ENSP00000324775.3:p.Cys80Phe
NM_147196.2:c.239G>T	NP_671729.2:p.Cys80Phe
XM_006713097.2:c.80G>T	XP_006713160.1:p.Cys27Phe
XM_011533574.1:c.80G>T	XP_011531876.1:p.Cys27Phe
XM_006713097.4:c.80G>T	XP_006713160.1:p.Cys27Phe
XM_024453446.1:c.80G>T	XP_024309214.1:p.Cys27Phe
NM_001370524.1:c.80G>T	NP_001357453.1:p.Cys27Phe
NM_001370525.1:c.80G>T	NP_001357454.1:p.Cys27Phe
NM_147196.3:c.239G>T MANE Select	NP_671729.2:p.Cys80Phe