Canonical Allele Identifier: CA351536632

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14183245G>C (hg19) ; chr3:g.14141745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141745G>C , CM000665.2:g.14141745G>C	GRCh38
NC_000003.11:g.14183245G>C , CM000665.1:g.14183245G>C	GRCh37
NC_000003.10:g.14158246G>C	NCBI36
NG_008975.1:g.21806G>C , LRG_435:g.21806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1183G>C	ENSP00000395617.1:n.*1183G>C
ENST00000306077.5:c.1153G>C MANE Select	ENSP00000303992.5:p.Val385Leu
ENST00000306077.4:c.1153G>C	ENSP00000303992.4:p.Val385Leu
ENST00000601399.3:n.327+2448G>C
ENST00000608606.1:c.236+2448G>C
ENST00000626721.1:n.18G>C
NM_024334.2:c.1153G>C , LRG_435t1:c.1153G>C	NP_077310.1:p.Val385Leu
XM_011534109.1:c.1048G>C	XP_011532411.1:p.Val350Leu
XM_017007176.2:c.1048G>C	XP_016862665.1:p.Val350Leu
NM_024334.3:c.1153G>C MANE Select	NP_077310.1:p.Val385Leu