Canonical Allele Identifier: CA505415625

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998874C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933989C>A , CM000681.2:g.7933989C>A	GRCh38
NC_000019.9:g.7998874C>A , CM000681.1:g.7998874C>A	GRCh37
NC_000019.8:g.7904874C>A	NCBI36
NG_051180.1:g.14835G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.558G>T MANE Select	ENSP00000270538.2:p.Val186=
ENST00000270538.7:c.558G>T	ENSP00000270538.2:p.Val186=
ENST00000595831.5:c.545G>T
ENST00000595876.5:c.*246G>T	ENSP00000471596.1:n.*246G>T
ENST00000597926.1:c.462G>T	ENSP00000469389.1:p.Val154=
ENST00000600748.5:n.543G>T
NM_006351.3:c.558G>T	NP_006342.2:p.Val186=
NM_006351.4:c.558G>T MANE Select	NP_006342.2:p.Val186=