Canonical Allele Identifier: CA505415559

Gene: TIMM44

Linked Data

• dbSNP Id: rs1454352212
• gnomAD v2: 19-7998817-C-T
• gnomAD v4: 19-7933932-C-T
• MyVariant Identifiers: chr19:g.7998817C>T (hg19) ; chr19:g.7933932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933932C>T , CM000681.2:g.7933932C>T	GRCh38
NC_000019.9:g.7998817C>T , CM000681.1:g.7998817C>T	GRCh37
NC_000019.8:g.7904817C>T	NCBI36
NG_051180.1:g.14892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.615G>A MANE Select	ENSP00000270538.2:p.Gln205=
ENST00000270538.7:c.615G>A	ENSP00000270538.2:p.Gln205=
ENST00000595831.5:c.602G>A
ENST00000595876.5:c.*303G>A	ENSP00000471596.1:n.*303G>A
ENST00000597926.1:c.519G>A	ENSP00000469389.1:p.Gln173=
ENST00000598675.1:n.21G>A
ENST00000600748.5:n.600G>A
NM_006351.3:c.615G>A	NP_006342.2:p.Gln205=
NM_006351.4:c.615G>A MANE Select	NP_006342.2:p.Gln205=