Canonical Allele Identifier: CA505415519

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7933905-C-A
• MyVariant Identifiers: chr19:g.7998790C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933905C>A , CM000681.2:g.7933905C>A	GRCh38
NC_000019.9:g.7998790C>A , CM000681.1:g.7998790C>A	GRCh37
NC_000019.8:g.7904790C>A	NCBI36
NG_051180.1:g.14919G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.642G>T MANE Select	ENSP00000270538.2:p.Ala214=
ENST00000270538.7:c.642G>T	ENSP00000270538.2:p.Ala214=
ENST00000595831.5:c.629G>T
ENST00000595876.5:c.*330G>T	ENSP00000471596.1:n.*330G>T
ENST00000597926.1:c.546G>T	ENSP00000469389.1:p.Ala182=
ENST00000598675.1:n.48G>T
ENST00000600748.5:n.627G>T
NM_006351.3:c.642G>T	NP_006342.2:p.Ala214=
NM_006351.4:c.642G>T MANE Select	NP_006342.2:p.Ala214=