Canonical Allele Identifier: CA352480624
Gene: TMIE HGNC NCBI

Linked Data

dbSNP Id: rs765378305
gnomAD v4: 3-46709170-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46709170C>G , CM000665.2:g.46709170C>G GRCh38
NC_000003.11:g.46750660C>G , CM000665.1:g.46750660C>G GRCh37
NC_000003.10:g.46725664C>G NCBI36
NG_011628.1:g.12838C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643606.3:c.256C>G MANE Select ENSP00000494576.2:p.Arg86Gly
ENST00000644830.1:c.97C>G ENSP00000495111.1:p.Arg33Gly
ENST00000651652.1:c.154C>G ENSP00000498953.1:p.Arg52Gly
ENST00000326431.3:c.256C>G ENSP00000324775.3:p.Arg86Gly
NM_147196.2:c.256C>G NP_671729.2:p.Arg86Gly
XM_006713097.2:c.97C>G XP_006713160.1:p.Arg33Gly
XM_011533574.1:c.97C>G XP_011531876.1:p.Arg33Gly
XM_006713097.4:c.97C>G XP_006713160.1:p.Arg33Gly
XM_024453446.1:c.97C>G XP_024309214.1:p.Arg33Gly
NM_001370524.1:c.97C>G NP_001357453.1:p.Arg33Gly
NM_001370525.1:c.97C>G NP_001357454.1:p.Arg33Gly
NM_147196.3:c.256C>G MANE Select NP_671729.2:p.Arg86Gly