Canonical Allele Identifier: CA505415638

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998883C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933998C>G , CM000681.2:g.7933998C>G	GRCh38
NC_000019.9:g.7998883C>G , CM000681.1:g.7998883C>G	GRCh37
NC_000019.8:g.7904883C>G	NCBI36
NG_051180.1:g.14826G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.549G>C MANE Select	ENSP00000270538.2:p.Val183=
ENST00000270538.7:c.549G>C	ENSP00000270538.2:p.Val183=
ENST00000595831.5:c.536G>C
ENST00000595876.5:c.*237G>C	ENSP00000471596.1:n.*237G>C
ENST00000597926.1:c.453G>C	ENSP00000469389.1:p.Val151=
ENST00000600748.5:n.534G>C
NM_006351.3:c.549G>C	NP_006342.2:p.Val183=
NM_006351.4:c.549G>C MANE Select	NP_006342.2:p.Val183=