Canonical Allele Identifier: CA351536644

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14183251A>T (hg19) ; chr3:g.14141751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141751A>T , CM000665.2:g.14141751A>T	GRCh38
NC_000003.11:g.14183251A>T , CM000665.1:g.14183251A>T	GRCh37
NC_000003.10:g.14158252A>T	NCBI36
NG_008975.1:g.21812A>T , LRG_435:g.21812A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*1189A>T	ENSP00000395617.1:n.*1189A>T
ENST00000306077.5:c.1159A>T MANE Select	ENSP00000303992.5:p.Ile387Phe
ENST00000306077.4:c.1159A>T	ENSP00000303992.4:p.Ile387Phe
ENST00000601399.3:n.327+2454A>T
ENST00000608606.1:c.236+2454A>T
ENST00000626721.1:n.24A>T
NM_024334.2:c.1159A>T , LRG_435t1:c.1159A>T	NP_077310.1:p.Ile387Phe
XM_011534109.1:c.1054A>T	XP_011532411.1:p.Ile352Phe
XM_017007176.2:c.1054A>T	XP_016862665.1:p.Ile352Phe
NM_024334.3:c.1159A>T MANE Select	NP_077310.1:p.Ile387Phe