Canonical Allele Identifier: CA541676331

Gene: TMEM43

Linked Data

• dbSNP Id: rs1220734815
• gnomAD v2: 3-14182950-C-T
• gnomAD v3: 3-14141450-C-T
• gnomAD v4: 3-14141450-C-T
• MyVariant Identifiers: chr3:g.14182950C>T (hg19) ; chr3:g.14141450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14141450C>T , CM000665.2:g.14141450C>T	GRCh38
NC_000003.11:g.14182950C>T , CM000665.1:g.14182950C>T	GRCh37
NC_000003.10:g.14157951C>T	NCBI36
NG_008975.1:g.21511C>T , LRG_435:g.21511C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.*1031-143C>T	ENSP00000395617.1:n.*1031-143C>T
ENST00000306077.5:c.1001-143C>T MANE Select	ENSP00000303992.5:n.1001-143C>T
ENST00000306077.4:c.1001-143C>T	ENSP00000303992.4:n.1001-143C>T
ENST00000601399.3:n.327+2153C>T
ENST00000608606.1:c.236+2153C>T
NM_024334.2:c.1001-143C>T , LRG_435t1:c.1001-143C>T	NP_077310.1:n.1001-143C>T
XM_011534109.1:c.896-143C>T	XP_011532411.1:n.896-143C>T
XM_017007176.2:c.896-143C>T	XP_016862665.1:n.896-143C>T
NM_024334.3:c.1001-143C>T MANE Select	NP_077310.1:n.1001-143C>T