Canonical Allele Identifier: CA2588035148

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7934061-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7934061G>A , CM000681.2:g.7934061G>A	GRCh38
NC_000019.9:g.7998946G>A , CM000681.1:g.7998946G>A	GRCh37
NC_000019.8:g.7904946G>A	NCBI36
NG_051180.1:g.14763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.543+28C>T MANE Select	ENSP00000270538.2:n.543+28C>T
ENST00000270538.7:c.543+28C>T	ENSP00000270538.2:n.543+28C>T
ENST00000595831.5:c.530+28C>T
ENST00000595876.5:c.*231+28C>T	ENSP00000471596.1:n.*231+28C>T
ENST00000597926.1:c.447+28C>T	ENSP00000469389.1:n.447+28C>T
ENST00000600748.5:n.528+28C>T
NM_006351.3:c.543+28C>T	NP_006342.2:n.543+28C>T
NM_006351.4:c.543+28C>T MANE Select	NP_006342.2:n.543+28C>T