Canonical Allele Identifier: CA403705809
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7943627-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943627C>A , CM000681.2:g.7943627C>A GRCh38
NC_000019.9:g.8008512C>A , CM000681.1:g.8008512C>A GRCh37
NC_000019.8:g.7914512C>A NCBI36
NG_051180.1:g.5197G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.25G>T MANE Select ENSP00000270538.2:p.Gly9Cys
ENST00000270538.7:c.25G>T ENSP00000270538.2:p.Gly9Cys
ENST00000595831.5:c.9G>T
ENST00000595876.5:c.25G>T ENSP00000471596.1:p.Gly9Cys
ENST00000597926.1:c.25G>T ENSP00000469389.1:p.Gly9Cys
ENST00000600000.1:n.40G>T
ENST00000600748.5:n.10G>T
NM_006351.3:c.25G>T NP_006342.2:p.Gly9Cys
NM_006351.4:c.25G>T MANE Select NP_006342.2:p.Gly9Cys