Canonical Allele Identifier: CA2588036400

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7943492-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7943492T>G , CM000681.2:g.7943492T>G	GRCh38
NC_000019.9:g.8008377T>G , CM000681.1:g.8008377T>G	GRCh37
NC_000019.8:g.7914377T>G	NCBI36
NG_051180.1:g.5332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.45+115A>C MANE Select	ENSP00000270538.2:n.45+115A>C
ENST00000270538.7:c.45+115A>C	ENSP00000270538.2:n.45+115A>C
ENST00000595831.5:c.29+115A>C
ENST00000595876.5:c.45+115A>C	ENSP00000471596.1:n.45+115A>C
ENST00000597926.1:c.45+115A>C	ENSP00000469389.1:n.45+115A>C
ENST00000600000.1:n.60+115A>C
ENST00000600748.5:n.30+115A>C
NM_006351.3:c.45+115A>C	NP_006342.2:n.45+115A>C
NM_006351.4:c.45+115A>C MANE Select	NP_006342.2:n.45+115A>C