Canonical Allele Identifier: CA403699522

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7933913-C-G
• MyVariant Identifiers: chr19:g.7998798C>G (hg19) ; chr19:g.7933913C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933913C>G , CM000681.2:g.7933913C>G	GRCh38
NC_000019.9:g.7998798C>G , CM000681.1:g.7998798C>G	GRCh37
NC_000019.8:g.7904798C>G	NCBI36
NG_051180.1:g.14911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.634G>C MANE Select	ENSP00000270538.2:p.Glu212Gln
ENST00000270538.7:c.634G>C	ENSP00000270538.2:p.Glu212Gln
ENST00000595831.5:c.621G>C
ENST00000595876.5:c.*322G>C	ENSP00000471596.1:n.*322G>C
ENST00000597926.1:c.538G>C	ENSP00000469389.1:p.Glu180Gln
ENST00000598675.1:n.40G>C
ENST00000600748.5:n.619G>C
NM_006351.3:c.634G>C	NP_006342.2:p.Glu212Gln
NM_006351.4:c.634G>C MANE Select	NP_006342.2:p.Glu212Gln