Canonical Allele Identifier: CA884257046

Gene: TIMM44

Linked Data

• dbSNP Id: rs1274775448
• gnomAD v4: 19-7943491-T-A
• MyVariant Identifiers: chr19:g.8008376T>A (hg19) ; chr19:g.7943491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7943491T>A , CM000681.2:g.7943491T>A	GRCh38
NC_000019.9:g.8008376T>A , CM000681.1:g.8008376T>A	GRCh37
NC_000019.8:g.7914376T>A	NCBI36
NG_051180.1:g.5333A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.45+116A>T MANE Select	ENSP00000270538.2:n.45+116A>T
ENST00000270538.7:c.45+116A>T	ENSP00000270538.2:n.45+116A>T
ENST00000595831.5:c.29+116A>T
ENST00000595876.5:c.45+116A>T	ENSP00000471596.1:n.45+116A>T
ENST00000597926.1:c.45+116A>T	ENSP00000469389.1:n.45+116A>T
ENST00000600000.1:n.60+116A>T
ENST00000600748.5:n.30+116A>T
NM_006351.3:c.45+116A>T	NP_006342.2:n.45+116A>T
NM_006351.4:c.45+116A>T MANE Select	NP_006342.2:n.45+116A>T