Canonical Allele Identifier: CA403699122

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998753T>G (hg19) ; chr19:g.7933868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933868T>G , CM000681.2:g.7933868T>G	GRCh38
NC_000019.9:g.7998753T>G , CM000681.1:g.7998753T>G	GRCh37
NC_000019.8:g.7904753T>G	NCBI36
NG_051180.1:g.14956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.679A>C MANE Select	ENSP00000270538.2:p.Asn227His
ENST00000270538.7:c.679A>C	ENSP00000270538.2:p.Asn227His
ENST00000595831.5:c.666A>C
ENST00000595876.5:c.*367A>C	ENSP00000471596.1:n.*367A>C
ENST00000597926.1:c.583A>C	ENSP00000469389.1:p.Asn195His
ENST00000598675.1:n.85A>C
ENST00000600748.5:n.664A>C
NM_006351.3:c.679A>C	NP_006342.2:p.Asn227His
NM_006351.4:c.679A>C MANE Select	NP_006342.2:p.Asn227His