Canonical Allele Identifier: CA2357951

Gene: TMIE

Linked Data

• dbSNP Id: rs183344458
• ExAC: 3:46747385 G / A
• gnomAD v2: 3-46747385-G-A
• gnomAD v3: 3-46705895-G-A
• gnomAD v4: 3-46705895-G-A
• MyVariant Identifiers: chr3:g.46747385G>A (hg19) ; chr3:g.46705895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705895G>A , CM000665.2:g.46705895G>A	GRCh38
NC_000003.11:g.46747385G>A , CM000665.1:g.46747385G>A	GRCh37
NC_000003.10:g.46722389G>A	NCBI36
NG_011628.1:g.9563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.199G>A MANE Select	ENSP00000494576.2:p.Val67Met
ENST00000644830.1:c.40G>A	ENSP00000495111.1:p.Val14Met
ENST00000651652.1:c.97G>A	ENSP00000498953.1:p.Val33Met
ENST00000326431.3:c.199G>A	ENSP00000324775.3:p.Val67Met
NM_147196.2:c.199G>A	NP_671729.2:p.Val67Met
XM_006713097.2:c.40G>A	XP_006713160.1:p.Val14Met
XM_011533574.1:c.40G>A	XP_011531876.1:p.Val14Met
XM_006713097.4:c.40G>A	XP_006713160.1:p.Val14Met
XM_024453446.1:c.40G>A	XP_024309214.1:p.Val14Met
NM_001370524.1:c.40G>A	NP_001357453.1:p.Val14Met
NM_001370525.1:c.40G>A	NP_001357454.1:p.Val14Met
NM_147196.3:c.199G>A MANE Select	NP_671729.2:p.Val67Met