Canonical Allele Identifier: CA1346973731
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1695244408
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141424G>A , CM000665.2:g.14141424G>A GRCh38
NC_000003.11:g.14182924G>A , CM000665.1:g.14182924G>A GRCh37
NC_000003.10:g.14157925G>A NCBI36
NG_008975.1:g.21485G>A , LRG_435:g.21485G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*1031-169G>A ENSP00000395617.1:n.*1031-169G>A
ENST00000306077.5:c.1001-169G>A MANE Select ENSP00000303992.5:n.1001-169G>A
ENST00000306077.4:c.1001-169G>A ENSP00000303992.4:n.1001-169G>A
ENST00000601399.3:n.327+2127G>A
ENST00000608606.1:c.236+2127G>A
NM_024334.2:c.1001-169G>A , LRG_435t1:c.1001-169G>A NP_077310.1:n.1001-169G>A
XM_011534109.1:c.896-169G>A XP_011532411.1:n.896-169G>A
XM_017007176.2:c.896-169G>A XP_016862665.1:n.896-169G>A
NM_024334.3:c.1001-169G>A MANE Select NP_077310.1:n.1001-169G>A
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