Canonical Allele Identifier: CA432553062
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14183244T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141744T>A , CM000665.2:g.14141744T>A GRCh38
NC_000003.11:g.14183244T>A , CM000665.1:g.14183244T>A GRCh37
NC_000003.10:g.14158245T>A NCBI36
NG_008975.1:g.21805T>A , LRG_435:g.21805T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1182T>A ENSP00000395617.1:n.*1182T>A
ENST00000306077.5:c.1152T>A MANE Select ENSP00000303992.5:p.Leu384=
ENST00000306077.4:c.1152T>A ENSP00000303992.4:p.Leu384=
ENST00000601399.3:n.327+2447T>A
ENST00000608606.1:c.236+2447T>A
ENST00000626721.1:n.17T>A
NM_024334.2:c.1152T>A , LRG_435t1:c.1152T>A NP_077310.1:p.Leu384=
XM_011534109.1:c.1047T>A XP_011532411.1:p.Leu349=
XM_017007176.2:c.1047T>A XP_016862665.1:p.Leu349=
NM_024334.3:c.1152T>A MANE Select NP_077310.1:p.Leu384=