Canonical Allele Identifier: CA051129

Gene: TMEM43

Linked Data

• ClinVar Variation Id: 1394630
• ClinVar RCV Id: RCV001884858
• dbSNP Id: rs767824014
• ExAC: 3:14183167 C / T
• gnomAD v2: 3-14183167-C-T
• gnomAD v4: 3-14141667-C-T
• MyVariant Identifiers: chr3:g.14183167C>T (hg19) ; chr3:g.14141667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141667C>T , CM000665.2:g.14141667C>T	GRCh38
NC_000003.11:g.14183167C>T , CM000665.1:g.14183167C>T	GRCh37
NC_000003.10:g.14158168C>T	NCBI36
NG_008975.1:g.21728C>T , LRG_435:g.21728C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1105C>T	ENSP00000395617.1:n.*1105C>T
ENST00000306077.5:c.1075C>T MANE Select	ENSP00000303992.5:p.Leu359=
ENST00000306077.4:c.1075C>T	ENSP00000303992.4:p.Leu359=
ENST00000601399.3:n.327+2370C>T
ENST00000608606.1:c.236+2370C>T
NM_024334.2:c.1075C>T , LRG_435t1:c.1075C>T	NP_077310.1:p.Leu359=
XM_011534109.1:c.970C>T	XP_011532411.1:p.Leu324=
XM_017007176.2:c.970C>T	XP_016862665.1:p.Leu324=
NM_024334.3:c.1075C>T MANE Select	NP_077310.1:p.Leu359=