Canonical Allele Identifier: CA505415491

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998763C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933878C>A , CM000681.2:g.7933878C>A	GRCh38
NC_000019.9:g.7998763C>A , CM000681.1:g.7998763C>A	GRCh37
NC_000019.8:g.7904763C>A	NCBI36
NG_051180.1:g.14946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.669G>T MANE Select	ENSP00000270538.2:p.Val223=
ENST00000270538.7:c.669G>T	ENSP00000270538.2:p.Val223=
ENST00000595831.5:c.656G>T
ENST00000595876.5:c.*357G>T	ENSP00000471596.1:n.*357G>T
ENST00000597926.1:c.573G>T	ENSP00000469389.1:p.Val191=
ENST00000598675.1:n.75G>T
ENST00000600748.5:n.654G>T
NM_006351.3:c.669G>T	NP_006342.2:p.Val223=
NM_006351.4:c.669G>T MANE Select	NP_006342.2:p.Val223=