Canonical Allele Identifier: CA352480425

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46750619T>G (hg19) ; chr3:g.46709129T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46709129T>G , CM000665.2:g.46709129T>G	GRCh38
NC_000003.11:g.46750619T>G , CM000665.1:g.46750619T>G	GRCh37
NC_000003.10:g.46725623T>G	NCBI36
NG_011628.1:g.12797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.215T>G MANE Select	ENSP00000494576.2:p.Ile72Ser
ENST00000644830.1:c.56T>G	ENSP00000495111.1:p.Ile19Ser
ENST00000651652.1:c.113T>G	ENSP00000498953.1:p.Ile38Ser
ENST00000326431.3:c.215T>G	ENSP00000324775.3:p.Ile72Ser
NM_147196.2:c.215T>G	NP_671729.2:p.Ile72Ser
XM_006713097.2:c.56T>G	XP_006713160.1:p.Ile19Ser
XM_011533574.1:c.56T>G	XP_011531876.1:p.Ile19Ser
XM_006713097.4:c.56T>G	XP_006713160.1:p.Ile19Ser
XM_024453446.1:c.56T>G	XP_024309214.1:p.Ile19Ser
NM_001370524.1:c.56T>G	NP_001357453.1:p.Ile19Ser
NM_001370525.1:c.56T>G	NP_001357454.1:p.Ile19Ser
NM_147196.3:c.215T>G MANE Select	NP_671729.2:p.Ile72Ser