Canonical Allele Identifier: CA505415632
Gene: TIMM44 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7998877G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933992G>T , CM000681.2:g.7933992G>T GRCh38
NC_000019.9:g.7998877G>T , CM000681.1:g.7998877G>T GRCh37
NC_000019.8:g.7904877G>T NCBI36
NG_051180.1:g.14832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.555C>A MANE Select ENSP00000270538.2:p.Ser185=
ENST00000270538.7:c.555C>A ENSP00000270538.2:p.Ser185=
ENST00000595831.5:c.542C>A
ENST00000595876.5:c.*243C>A ENSP00000471596.1:n.*243C>A
ENST00000597926.1:c.459C>A ENSP00000469389.1:p.Ser153=
ENST00000600748.5:n.540C>A
NM_006351.3:c.555C>A NP_006342.2:p.Ser185=
NM_006351.4:c.555C>A MANE Select NP_006342.2:p.Ser185=