Canonical Allele Identifier: CA505415678
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7934001-C-T
MyVariant Identifiers: chr19:g.7998886C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934001C>T , CM000681.2:g.7934001C>T GRCh38
NC_000019.9:g.7998886C>T , CM000681.1:g.7998886C>T GRCh37
NC_000019.8:g.7904886C>T NCBI36
NG_051180.1:g.14823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.546G>A MANE Select ENSP00000270538.2:p.Gly182=
ENST00000270538.7:c.546G>A ENSP00000270538.2:p.Gly182=
ENST00000595831.5:c.533G>A
ENST00000595876.5:c.*234G>A ENSP00000471596.1:n.*234G>A
ENST00000597926.1:c.450G>A ENSP00000469389.1:p.Gly150=
ENST00000600748.5:n.531G>A
NM_006351.3:c.546G>A NP_006342.2:p.Gly182=
NM_006351.4:c.546G>A MANE Select NP_006342.2:p.Gly182=
Search 100 bp 5'
Search 100 bp 3'