Canonical Allele Identifier: CA2357955

Gene: TMIE

Linked Data

• ClinVar Variation Id: 504683
• ClinVar RCV Id: RCV000605722 ; RCV001565176
• dbSNP Id: rs375470385
• ExAC: 3:46747402 G / A
• gnomAD v2: 3-46747402-G-A
• gnomAD v3: 3-46705912-G-A
• gnomAD v4: 3-46705912-G-A
• MyVariant Identifiers: chr3:g.46747402G>A (hg19) ; chr3:g.46705912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705912G>A , CM000665.2:g.46705912G>A	GRCh38
NC_000003.11:g.46747402G>A , CM000665.1:g.46747402G>A	GRCh37
NC_000003.10:g.46722406G>A	NCBI36
NG_011628.1:g.9580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.211+5G>A MANE Select	ENSP00000494576.2:n.211+5G>A
ENST00000644830.1:c.52+5G>A	ENSP00000495111.1:n.52+5G>A
ENST00000651652.1:c.109+5G>A	ENSP00000498953.1:n.109+5G>A
ENST00000326431.3:c.211+5G>A	ENSP00000324775.3:n.211+5G>A
NM_147196.2:c.211+5G>A	NP_671729.2:n.211+5G>A
XM_006713097.2:c.52+5G>A	XP_006713160.1:n.52+5G>A
XM_011533574.1:c.52+5G>A	XP_011531876.1:n.52+5G>A
XM_006713097.4:c.52+5G>A	XP_006713160.1:n.52+5G>A
XM_024453446.1:c.52+5G>A	XP_024309214.1:n.52+5G>A
NM_001370524.1:c.52+5G>A	NP_001357453.1:n.52+5G>A
NM_001370525.1:c.52+5G>A	NP_001357454.1:n.52+5G>A
NM_147196.3:c.211+5G>A MANE Select	NP_671729.2:n.211+5G>A