Canonical Allele Identifier: CA052070
Gene: TMEM43 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.14130828G>T
GRCh37 chr3:g.14172328G>T
Revel Score:
ENST00000306077 (MANE Select) 0.257
gnomAD v2:
3:14172328 G / T
gnomAD v3:
3:14130828 G / T
gnomAD v4:
chr3-14130828-G-T
Joint Max Group AF 0.00000876 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV001191659
RCV001359549
ClinVar Variation:
928011
dbSNP:
151010429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130828G>T , CM000665.2:g.14130828G>T GRCh38
NC_000003.11:g.14172328G>T , CM000665.1:g.14172328G>T GRCh37
NC_000003.10:g.14147329G>T NCBI36
NG_008975.1:g.10889G>T , LRG_435:g.10889G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*199G>T ENSP00000395617.1:n.*199G>T
ENST00000306077.5:c.169G>T MANE Select ENSP00000303992.5:p.Ala57Ser
ENST00000306077.4:c.169G>T ENSP00000303992.4:p.Ala57Ser
ENST00000432444.1:c.*199G>T ENSP00000395617.1:n.*199G>T
NM_024334.2:c.169G>T , LRG_435t1:c.169G>T NP_077310.1:p.Ala57Ser
XM_011534109.1:c.64G>T XP_011532411.1:p.Ala22Ser
XM_017007176.2:c.64G>T XP_016862665.1:p.Ala22Ser
NM_024334.3:c.169G>T MANE Select NP_077310.1:p.Ala57Ser
Search 100 bp 5'
Search 100 bp 3'