Canonical Allele Identifier: CA352478936

Gene: TMIE

Linked Data

• dbSNP Id: rs12489552
• gnomAD v2: 3-46747290-C-T
• MyVariant Identifiers: chr3:g.46747290C>T (hg19) ; chr3:g.46705800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705800C>T , CM000665.2:g.46705800C>T	GRCh38
NC_000003.11:g.46747290C>T , CM000665.1:g.46747290C>T	GRCh37
NC_000003.10:g.46722294C>T	NCBI36
NG_011628.1:g.9468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.104C>T MANE Select	ENSP00000494576.2:p.Ala35Val
ENST00000644830.1:c.-56C>T	ENSP00000495111.1:n.-56C>T
ENST00000651652.1:c.2C>T	ENSP00000498953.1:p.Ala1Val
ENST00000326431.3:c.104C>T	ENSP00000324775.3:p.Ala35Val
NM_147196.2:c.104C>T	NP_671729.2:p.Ala35Val
XM_006713097.2:c.-56C>T	XP_006713160.1:n.-56C>T
XM_011533574.1:c.-56C>T	XP_011531876.1:n.-56C>T
XM_006713097.4:c.-56C>T	XP_006713160.1:n.-56C>T
XM_024453446.1:c.-56C>T	XP_024309214.1:n.-56C>T
NM_001370524.1:c.-56C>T	NP_001357453.1:n.-56C>T
NM_001370525.1:c.-56C>T	NP_001357454.1:n.-56C>T
NM_147196.3:c.104C>T MANE Select	NP_671729.2:p.Ala35Val