Canonical Allele Identifier: CA351533955

Gene: TMEM43

Linked Data

• gnomAD v4: 3-14125194-A-C
• MyVariant Identifiers: chr3:g.14166694A>C (hg19) ; chr3:g.14125194A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14125194A>C , CM000665.2:g.14125194A>C	GRCh38
NC_000003.11:g.14166694A>C , CM000665.1:g.14166694A>C	GRCh37
NC_000003.10:g.14141695A>C	NCBI36
NG_008975.1:g.5255A>C , LRG_435:g.5255A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000432444.2:c.1A>C	ENSP00000395617.1:p.Met1Leu
ENST00000306077.5:c.1A>C MANE Select	ENSP00000303992.5:p.Met1Leu
ENST00000306077.4:c.1A>C	ENSP00000303992.4:p.Met1Leu
ENST00000432444.1:c.1A>C	ENSP00000395617.1:p.Met1Leu
NM_024334.2:c.1A>C , LRG_435t1:c.1A>C	NP_077310.1:p.Met1Leu
XM_017007176.2:c.-336A>C	XP_016862665.1:n.-336A>C
NM_024334.3:c.1A>C MANE Select	NP_077310.1:p.Met1Leu