Canonical Allele Identifier: CA9149645

Gene: TIMM44

Linked Data

• dbSNP Id: rs139625465
• ExAC: 19:7997576 G / A
• gnomAD v2: 19-7997576-G-A
• gnomAD v3: 19-7932691-G-A
• gnomAD v4: 19-7932691-G-A
• COSMIC: COSM5540384
• MyVariant Identifiers: chr19:g.7997576G>A (hg19) ; chr19:g.7932691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7932691G>A , CM000681.2:g.7932691G>A	GRCh38
NC_000019.9:g.7997576G>A , CM000681.1:g.7997576G>A	GRCh37
NC_000019.8:g.7903576G>A	NCBI36
NG_051180.1:g.16133C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270538.8:c.923C>T MANE Select	ENSP00000270538.2:p.Pro308Leu
ENST00000270538.7:c.923C>T	ENSP00000270538.2:p.Pro308Leu
ENST00000595565.5:c.56C>T	ENSP00000469273.1:p.Pro19Leu
ENST00000595831.5:c.910C>T
ENST00000595876.5:c.*611C>T	ENSP00000471596.1:n.*611C>T
ENST00000598675.1:n.329C>T
NM_006351.3:c.923C>T	NP_006342.2:p.Pro308Leu
NM_006351.4:c.923C>T MANE Select	NP_006342.2:p.Pro308Leu