Canonical Allele Identifier: CA351533969
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14166700G>C (hg19) chr3:g.14125200G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125200G>C , CM000665.2:g.14125200G>C GRCh38
NC_000003.11:g.14166700G>C , CM000665.1:g.14166700G>C GRCh37
NC_000003.10:g.14141701G>C NCBI36
NG_008975.1:g.5261G>C , LRG_435:g.5261G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.7G>C ENSP00000395617.1:p.Ala3Pro
ENST00000306077.5:c.7G>C MANE Select ENSP00000303992.5:p.Ala3Pro
ENST00000306077.4:c.7G>C ENSP00000303992.4:p.Ala3Pro
ENST00000432444.1:c.7G>C ENSP00000395617.1:p.Ala3Pro
NM_024334.2:c.7G>C , LRG_435t1:c.7G>C NP_077310.1:p.Ala3Pro
XM_017007176.2:c.-330G>C XP_016862665.1:n.-330G>C
NM_024334.3:c.7G>C MANE Select NP_077310.1:p.Ala3Pro
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