Canonical Allele Identifier: CA351536223

Gene: TMEM43

Linked Data

• MyVariant Identifiers: chr3:g.14180748G>T (hg19) ; chr3:g.14139248G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14139248G>T , CM000665.2:g.14139248G>T	GRCh38
NC_000003.11:g.14180748G>T , CM000665.1:g.14180748G>T	GRCh37
NC_000003.10:g.14155749G>T	NCBI36
NG_008975.1:g.19309G>T , LRG_435:g.19309G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432444.2:c.*981G>T	ENSP00000395617.1:n.*981G>T
ENST00000306077.5:c.951G>T MANE Select	ENSP00000303992.5:p.Met317Ile
ENST00000306077.4:c.951G>T	ENSP00000303992.4:p.Met317Ile
ENST00000601399.3:n.278G>T
ENST00000608606.1:c.187G>T
NM_024334.2:c.951G>T , LRG_435t1:c.951G>T	NP_077310.1:p.Met317Ile
XM_011534109.1:c.846G>T	XP_011532411.1:p.Met282Ile
XM_017007176.2:c.846G>T	XP_016862665.1:p.Met282Ile
NM_024334.3:c.951G>T MANE Select	NP_077310.1:p.Met317Ile