Canonical Allele Identifier: CA505415679

Gene: TIMM44

Linked Data

• dbSNP Id: rs746009620
• gnomAD v4: 19-7934001-C-A
• MyVariant Identifiers: chr19:g.7998886C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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