Canonical Allele Identifier: CA432553063
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14183247G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141747G>T , CM000665.2:g.14141747G>T GRCh38
NC_000003.11:g.14183247G>T , CM000665.1:g.14183247G>T GRCh37
NC_000003.10:g.14158248G>T NCBI36
NG_008975.1:g.21808G>T , LRG_435:g.21808G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1185G>T ENSP00000395617.1:n.*1185G>T
ENST00000306077.5:c.1155G>T MANE Select ENSP00000303992.5:p.Val385=
ENST00000306077.4:c.1155G>T ENSP00000303992.4:p.Val385=
ENST00000601399.3:n.327+2450G>T
ENST00000608606.1:c.236+2450G>T
ENST00000626721.1:n.20G>T
NM_024334.2:c.1155G>T , LRG_435t1:c.1155G>T NP_077310.1:p.Val385=
XM_011534109.1:c.1050G>T XP_011532411.1:p.Val350=
XM_017007176.2:c.1050G>T XP_016862665.1:p.Val350=
NM_024334.3:c.1155G>T MANE Select NP_077310.1:p.Val385=