Canonical Allele Identifier: CA352480435

Gene: TMIE

Linked Data

• dbSNP Id: rs770957465
• gnomAD v2: 3-46750622-C-A
• gnomAD v4: 3-46709132-C-A
• MyVariant Identifiers: chr3:g.46750622C>A (hg19) ; chr3:g.46709132C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46709132C>A , CM000665.2:g.46709132C>A	GRCh38
NC_000003.11:g.46750622C>A , CM000665.1:g.46750622C>A	GRCh37
NC_000003.10:g.46725626C>A	NCBI36
NG_011628.1:g.12800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.218C>A MANE Select	ENSP00000494576.2:p.Thr73Lys
ENST00000644830.1:c.59C>A	ENSP00000495111.1:p.Thr20Lys
ENST00000651652.1:c.116C>A	ENSP00000498953.1:p.Thr39Lys
ENST00000326431.3:c.218C>A	ENSP00000324775.3:p.Thr73Lys
NM_147196.2:c.218C>A	NP_671729.2:p.Thr73Lys
XM_006713097.2:c.59C>A	XP_006713160.1:p.Thr20Lys
XM_011533574.1:c.59C>A	XP_011531876.1:p.Thr20Lys
XM_006713097.4:c.59C>A	XP_006713160.1:p.Thr20Lys
XM_024453446.1:c.59C>A	XP_024309214.1:p.Thr20Lys
NM_001370524.1:c.59C>A	NP_001357453.1:p.Thr20Lys
NM_001370525.1:c.59C>A	NP_001357454.1:p.Thr20Lys
NM_147196.3:c.218C>A MANE Select	NP_671729.2:p.Thr73Lys