Canonical Allele Identifier: CA403705951
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs1185302702
gnomAD v4: 19-7943645-C-T
MyVariant Identifiers: chr19:g.8008530C>T (hg19) chr19:g.7943645C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943645C>T , CM000681.2:g.7943645C>T GRCh38
NC_000019.9:g.8008530C>T , CM000681.1:g.8008530C>T GRCh37
NC_000019.8:g.7914530C>T NCBI36
NG_051180.1:g.5179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.7G>A MANE Select ENSP00000270538.2:p.Ala3Thr
ENST00000270538.7:c.7G>A ENSP00000270538.2:p.Ala3Thr
ENST00000595876.5:c.7G>A ENSP00000471596.1:p.Ala3Thr
ENST00000597926.1:c.7G>A ENSP00000469389.1:p.Ala3Thr
ENST00000600000.1:n.22G>A
NM_006351.3:c.7G>A NP_006342.2:p.Ala3Thr
NM_006351.4:c.7G>A MANE Select NP_006342.2:p.Ala3Thr
Search 100 bp 5'
Search 100 bp 3'