Canonical Allele Identifier: CA505415628
Gene: TIMM44 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7998874C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933989C>T , CM000681.2:g.7933989C>T GRCh38
NC_000019.9:g.7998874C>T , CM000681.1:g.7998874C>T GRCh37
NC_000019.8:g.7904874C>T NCBI36
NG_051180.1:g.14835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.558G>A MANE Select ENSP00000270538.2:p.Val186=
ENST00000270538.7:c.558G>A ENSP00000270538.2:p.Val186=
ENST00000595831.5:c.545G>A
ENST00000595876.5:c.*246G>A ENSP00000471596.1:n.*246G>A
ENST00000597926.1:c.462G>A ENSP00000469389.1:p.Val154=
ENST00000600748.5:n.543G>A
NM_006351.3:c.558G>A NP_006342.2:p.Val186=
NM_006351.4:c.558G>A MANE Select NP_006342.2:p.Val186=