Canonical Allele Identifier: CA351534324
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14170994C>G (hg19) chr3:g.14129494C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129494C>G , CM000665.2:g.14129494C>G GRCh38
NC_000003.11:g.14170994C>G , CM000665.1:g.14170994C>G GRCh37
NC_000003.10:g.14145995C>G NCBI36
NG_008975.1:g.9555C>G , LRG_435:g.9555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*125C>G ENSP00000395617.1:n.*125C>G
ENST00000306077.5:c.95C>G MANE Select ENSP00000303992.5:p.Thr32Ser
ENST00000306077.4:c.95C>G ENSP00000303992.4:p.Thr32Ser
ENST00000432444.1:c.*125C>G ENSP00000395617.1:n.*125C>G
NM_024334.2:c.95C>G , LRG_435t1:c.95C>G NP_077310.1:p.Thr32Ser
XM_011534109.1:c.-11C>G XP_011532411.1:n.-11C>G
XM_017007176.2:c.-11C>G XP_016862665.1:n.-11C>G
NM_024334.3:c.95C>G MANE Select NP_077310.1:p.Thr32Ser
Search 100 bp 5'
Search 100 bp 3'