Canonical Allele Identifier: CA2588036453

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7943551-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7943551G>A , CM000681.2:g.7943551G>A	GRCh38
NC_000019.9:g.8008436G>A , CM000681.1:g.8008436G>A	GRCh37
NC_000019.8:g.7914436G>A	NCBI36
NG_051180.1:g.5273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.45+56C>T MANE Select	ENSP00000270538.2:n.45+56C>T
ENST00000270538.7:c.45+56C>T	ENSP00000270538.2:n.45+56C>T
ENST00000595831.5:c.29+56C>T
ENST00000595876.5:c.45+56C>T	ENSP00000471596.1:n.45+56C>T
ENST00000597926.1:c.45+56C>T	ENSP00000469389.1:n.45+56C>T
ENST00000600000.1:n.60+56C>T
ENST00000600748.5:n.30+56C>T
NM_006351.3:c.45+56C>T	NP_006342.2:n.45+56C>T
NM_006351.4:c.45+56C>T MANE Select	NP_006342.2:n.45+56C>T