Canonical Allele Identifier: CA73730623

Gene: TMIE

Linked Data

• dbSNP Id: rs978458414
• gnomAD v3: 3-46706121-G-C
• gnomAD v4: 3-46706121-G-C
• MyVariant Identifiers: chr3:g.46747611G>C (hg19) ; chr3:g.46706121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46706121G>C , CM000665.2:g.46706121G>C	GRCh38
NC_000003.11:g.46747611G>C , CM000665.1:g.46747611G>C	GRCh37
NC_000003.10:g.46722615G>C	NCBI36
NG_011628.1:g.9789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.211+214G>C MANE Select	ENSP00000494576.2:n.211+214G>C
ENST00000644830.1:c.52+214G>C	ENSP00000495111.1:n.52+214G>C
ENST00000651652.1:c.109+214G>C	ENSP00000498953.1:n.109+214G>C
ENST00000326431.3:c.211+214G>C	ENSP00000324775.3:n.211+214G>C
NM_147196.2:c.211+214G>C	NP_671729.2:n.211+214G>C
XM_006713097.2:c.52+214G>C	XP_006713160.1:n.52+214G>C
XM_011533574.1:c.52+214G>C	XP_011531876.1:n.52+214G>C
XM_006713097.4:c.52+214G>C	XP_006713160.1:n.52+214G>C
XM_024453446.1:c.52+214G>C	XP_024309214.1:n.52+214G>C
NM_001370524.1:c.52+214G>C	NP_001357453.1:n.52+214G>C
NM_001370525.1:c.52+214G>C	NP_001357454.1:n.52+214G>C
NM_147196.3:c.211+214G>C MANE Select	NP_671729.2:n.211+214G>C