Canonical Allele Identifier: CA2357912

Gene: TMIE

Linked Data

• ClinVar Variation Id: 345547
• ClinVar RCV Id: RCV000358521 ; RCV000605156
• dbSNP Id: rs530579940
• ExAC: 3:46742941 C / A
• gnomAD v2: 3-46742941-C-A
• gnomAD v3: 3-46701451-C-A
• gnomAD v4: 3-46701451-C-A
• MyVariant Identifiers: chr3:g.46742941C>A (hg19) ; chr3:g.46701451C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46701451C>A , CM000665.2:g.46701451C>A	GRCh38
NC_000003.11:g.46742941C>A , CM000665.1:g.46742941C>A	GRCh37
NC_000003.10:g.46717945C>A	NCBI36
NG_011628.1:g.5119C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.-37C>A MANE Select	ENSP00000494576.2:n.-37C>A
ENST00000644830.1:c.-66-4339C>A	ENSP00000495111.1:n.-66-4339C>A
ENST00000326431.3:c.-37C>A	ENSP00000324775.3:n.-37C>A
NM_147196.2:c.-37C>A	NP_671729.2:n.-37C>A
XM_006713097.2:c.-66-4339C>A	XP_006713160.1:n.-66-4339C>A
XM_011533574.1:c.-66-4339C>A	XP_011531876.1:n.-66-4339C>A
XM_006713097.4:c.-66-4339C>A	XP_006713160.1:n.-66-4339C>A
XM_024453446.1:c.-66-4339C>A	XP_024309214.1:n.-66-4339C>A
NM_001370524.1:c.-66-4339C>A	NP_001357453.1:n.-66-4339C>A
NM_001370525.1:c.-66-4339C>A	NP_001357454.1:n.-66-4339C>A
NM_147196.3:c.-37C>A MANE Select	NP_671729.2:n.-37C>A