Canonical Allele Identifier: CA432550637
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1195496793
gnomAD v2: 3-14166702-G-A
MyVariant Identifiers: chr3:g.14166702G>A (hg19) chr3:g.14125202G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125202G>A , CM000665.2:g.14125202G>A GRCh38
NC_000003.11:g.14166702G>A , CM000665.1:g.14166702G>A GRCh37
NC_000003.10:g.14141703G>A NCBI36
NG_008975.1:g.5263G>A , LRG_435:g.5263G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.9G>A ENSP00000395617.1:p.Ala3=
ENST00000306077.5:c.9G>A MANE Select ENSP00000303992.5:p.Ala3=
ENST00000306077.4:c.9G>A ENSP00000303992.4:p.Ala3=
ENST00000432444.1:c.9G>A ENSP00000395617.1:p.Ala3=
NM_024334.2:c.9G>A , LRG_435t1:c.9G>A NP_077310.1:p.Ala3=
XM_017007176.2:c.-328G>A XP_016862665.1:n.-328G>A
NM_024334.3:c.9G>A MANE Select NP_077310.1:p.Ala3=
Search 100 bp 5'
Search 100 bp 3'