Canonical Allele Identifier: CA351534327

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14129496-T-G
• MyVariant Identifiers: chr3:g.14170996T>G (hg19) ; chr3:g.14129496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14129496T>G , CM000665.2:g.14129496T>G	GRCh38
NC_000003.11:g.14170996T>G , CM000665.1:g.14170996T>G	GRCh37
NC_000003.10:g.14145997T>G	NCBI36
NG_008975.1:g.9557T>G , LRG_435:g.9557T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*127T>G	ENSP00000395617.1:n.*127T>G
ENST00000306077.5:c.97T>G MANE Select	ENSP00000303992.5:p.Ser33Ala
ENST00000306077.4:c.97T>G	ENSP00000303992.4:p.Ser33Ala
ENST00000432444.1:c.*127T>G	ENSP00000395617.1:n.*127T>G
NM_024334.2:c.97T>G , LRG_435t1:c.97T>G	NP_077310.1:p.Ser33Ala
XM_011534109.1:c.-9T>G	XP_011532411.1:n.-9T>G
XM_017007176.2:c.-9T>G	XP_016862665.1:n.-9T>G
NM_024334.3:c.97T>G MANE Select	NP_077310.1:p.Ser33Ala