Canonical Allele Identifier: CA10618723

Gene: TMIE

Linked Data

• ClinVar Variation Id: 345548
• ClinVar RCV Id: RCV000309816
• dbSNP Id: rs886058573
• gnomAD v4: 3-46705840-A-G
• MyVariant Identifiers: chr3:g.46747330A>G (hg19) ; chr3:g.46705840A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705840A>G , CM000665.2:g.46705840A>G	GRCh38
NC_000003.11:g.46747330A>G , CM000665.1:g.46747330A>G	GRCh37
NC_000003.10:g.46722334A>G	NCBI36
NG_011628.1:g.9508A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.144A>G MANE Select	ENSP00000494576.2:p.Thr48=
ENST00000644830.1:c.-16A>G	ENSP00000495111.1:n.-16A>G
ENST00000651652.1:c.42A>G	ENSP00000498953.1:p.Thr14=
ENST00000326431.3:c.144A>G	ENSP00000324775.3:p.Thr48=
NM_147196.2:c.144A>G	NP_671729.2:p.Thr48=
XM_006713097.2:c.-16A>G	XP_006713160.1:n.-16A>G
XM_011533574.1:c.-16A>G	XP_011531876.1:n.-16A>G
XM_006713097.4:c.-16A>G	XP_006713160.1:n.-16A>G
XM_024453446.1:c.-16A>G	XP_024309214.1:n.-16A>G
NM_001370524.1:c.-16A>G	NP_001357453.1:n.-16A>G
NM_001370525.1:c.-16A>G	NP_001357454.1:n.-16A>G
NM_147196.3:c.144A>G MANE Select	NP_671729.2:p.Thr48=