Canonical Allele Identifier: CA352479047

Gene: TMIE

Linked Data

• MyVariant Identifiers: chr3:g.46747324G>C (hg19) ; chr3:g.46705834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46705834G>C , CM000665.2:g.46705834G>C	GRCh38
NC_000003.11:g.46747324G>C , CM000665.1:g.46747324G>C	GRCh37
NC_000003.10:g.46722328G>C	NCBI36
NG_011628.1:g.9502G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643606.3:c.138G>C MANE Select	ENSP00000494576.2:p.Lys46Asn
ENST00000644830.1:c.-22G>C	ENSP00000495111.1:n.-22G>C
ENST00000651652.1:c.36G>C	ENSP00000498953.1:p.Lys12Asn
ENST00000326431.3:c.138G>C	ENSP00000324775.3:p.Lys46Asn
NM_147196.2:c.138G>C	NP_671729.2:p.Lys46Asn
XM_006713097.2:c.-22G>C	XP_006713160.1:n.-22G>C
XM_011533574.1:c.-22G>C	XP_011531876.1:n.-22G>C
XM_006713097.4:c.-22G>C	XP_006713160.1:n.-22G>C
XM_024453446.1:c.-22G>C	XP_024309214.1:n.-22G>C
NM_001370524.1:c.-22G>C	NP_001357453.1:n.-22G>C
NM_001370525.1:c.-22G>C	NP_001357454.1:n.-22G>C
NM_147196.3:c.138G>C MANE Select	NP_671729.2:p.Lys46Asn