Canonical Allele Identifier: CA505415564

Gene: TIMM44

Linked Data

• dbSNP Id: rs1984063125
• MyVariant Identifiers: chr19:g.7998825T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933940T>G , CM000681.2:g.7933940T>G	GRCh38
NC_000019.9:g.7998825T>G , CM000681.1:g.7998825T>G	GRCh37
NC_000019.8:g.7904825T>G	NCBI36
NG_051180.1:g.14884A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.607A>C MANE Select	ENSP00000270538.2:p.Arg203=
ENST00000270538.7:c.607A>C	ENSP00000270538.2:p.Arg203=
ENST00000595831.5:c.594A>C
ENST00000595876.5:c.*295A>C	ENSP00000471596.1:n.*295A>C
ENST00000597926.1:c.511A>C	ENSP00000469389.1:p.Arg171=
ENST00000598675.1:n.13A>C
ENST00000600748.5:n.592A>C
NM_006351.3:c.607A>C	NP_006342.2:p.Arg203=
NM_006351.4:c.607A>C MANE Select	NP_006342.2:p.Arg203=