Canonical Allele Identifier: CA024597

Gene: TMEM43

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141742C>G , CM000665.2:g.14141742C>G	GRCh38
NC_000003.11:g.14183242C>G , CM000665.1:g.14183242C>G	GRCh37
NC_000003.10:g.14158243C>G	NCBI36
NG_008975.1:g.21803C>G , LRG_435:g.21803C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024334.3:c.1150C>G MANE Select	NP_077310.1:p.Leu384Val
ENST00000306077.5:c.1150C>G MANE Select	ENSP00000303992.5:p.Leu384Val
NM_024334.2:c.1150C>G , LRG_435t1:c.1150C>G	NP_077310.1:p.Leu384Val
ENST00000306077.4:c.1150C>G	ENSP00000303992.4:p.Leu384Val
ENST00000432444.2:c.*1180C>G	ENSP00000395617.1:n.*1180C>G
ENST00000601399.3:n.327+2445C>G
ENST00000608606.1:c.236+2445C>G
ENST00000626721.1:n.15C>G
XM_011534109.1:c.1045C>G	XP_011532411.1:p.Leu349Val
XM_017007176.2:c.1045C>G	XP_016862665.1:p.Leu349Val