Canonical Allele Identifier: CA73730156
Gene: TMIE HGNC NCBI

Linked Data

dbSNP Id: rs1051553580
gnomAD v2: 3-46747178-T-C
gnomAD v3: 3-46705688-T-C
gnomAD v4: 3-46705688-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46705688T>C , CM000665.2:g.46705688T>C GRCh38
NC_000003.11:g.46747178T>C , CM000665.1:g.46747178T>C GRCh37
NC_000003.10:g.46722182T>C NCBI36
NG_011628.1:g.9356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643606.3:c.94-102T>C MANE Select ENSP00000494576.2:n.94-102T>C
ENST00000644830.1:c.-66-102T>C ENSP00000495111.1:n.-66-102T>C
ENST00000326431.3:c.94-102T>C ENSP00000324775.3:n.94-102T>C
NM_147196.2:c.94-102T>C NP_671729.2:n.94-102T>C
XM_006713097.2:c.-66-102T>C XP_006713160.1:n.-66-102T>C
XM_011533574.1:c.-66-102T>C XP_011531876.1:n.-66-102T>C
XM_006713097.4:c.-66-102T>C XP_006713160.1:n.-66-102T>C
XM_024453446.1:c.-66-102T>C XP_024309214.1:n.-66-102T>C
NM_001370524.1:c.-66-102T>C NP_001357453.1:n.-66-102T>C
NM_001370525.1:c.-66-102T>C NP_001357454.1:n.-66-102T>C
NM_147196.3:c.94-102T>C MANE Select NP_671729.2:n.94-102T>C