Canonical Allele Identifier: CA352479140

Gene: TMIE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705858G>C , CM000665.2:g.46705858G>C	GRCh38
NC_000003.11:g.46747348G>C , CM000665.1:g.46747348G>C	GRCh37
NC_000003.10:g.46722352G>C	NCBI36
NG_011628.1:g.9526G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_147196.3:c.162G>C MANE Select	NP_671729.2:p.Met54Ile
ENST00000643606.3:c.162G>C MANE Select	ENSP00000494576.2:p.Met54Ile
NM_001370524.1:c.3G>C	NP_001357453.1:p.Met1Ile
NM_001370525.1:c.3G>C	NP_001357454.1:p.Met1Ile
NM_147196.2:c.162G>C	NP_671729.2:p.Met54Ile
ENST00000326431.3:c.162G>C	ENSP00000324775.3:p.Met54Ile
ENST00000644830.1:c.3G>C	ENSP00000495111.1:p.Met1Ile
ENST00000651652.1:c.60G>C	ENSP00000498953.1:p.Met20Ile
XM_006713097.2:c.3G>C	XP_006713160.1:p.Met1Ile
XM_006713097.4:c.3G>C	XP_006713160.1:p.Met1Ile
XM_011533574.1:c.3G>C	XP_011531876.1:p.Met1Ile
XM_024453446.1:c.3G>C	XP_024309214.1:p.Met1Ile