Canonical Allele Identifier: CA352479021

Gene: TMIE

Linked Data

• dbSNP Id: rs1700544773
• gnomAD v3: 3-46705826-C-A
• gnomAD v4: 3-46705826-C-A
• MyVariant Identifiers: chr3:g.46747316C>A (hg19) ; chr3:g.46705826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705826C>A , CM000665.2:g.46705826C>A	GRCh38
NC_000003.11:g.46747316C>A , CM000665.1:g.46747316C>A	GRCh37
NC_000003.10:g.46722320C>A	NCBI36
NG_011628.1:g.9494C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.130C>A MANE Select	ENSP00000494576.2:p.Leu44Met
ENST00000644830.1:c.-30C>A	ENSP00000495111.1:n.-30C>A
ENST00000651652.1:c.28C>A	ENSP00000498953.1:p.Leu10Met
ENST00000326431.3:c.130C>A	ENSP00000324775.3:p.Leu44Met
NM_147196.2:c.130C>A	NP_671729.2:p.Leu44Met
XM_006713097.2:c.-30C>A	XP_006713160.1:n.-30C>A
XM_011533574.1:c.-30C>A	XP_011531876.1:n.-30C>A
XM_006713097.4:c.-30C>A	XP_006713160.1:n.-30C>A
XM_024453446.1:c.-30C>A	XP_024309214.1:n.-30C>A
NM_001370524.1:c.-30C>A	NP_001357453.1:n.-30C>A
NM_001370525.1:c.-30C>A	NP_001357454.1:n.-30C>A
NM_147196.3:c.130C>A MANE Select	NP_671729.2:p.Leu44Met