Canonical Allele Identifier: CA403699429

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7933901-C-T
• MyVariant Identifiers: chr19:g.7998786C>T (hg19) ; chr19:g.7933901C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933901C>T , CM000681.2:g.7933901C>T	GRCh38
NC_000019.9:g.7998786C>T , CM000681.1:g.7998786C>T	GRCh37
NC_000019.8:g.7904786C>T	NCBI36
NG_051180.1:g.14923G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.646G>A MANE Select	ENSP00000270538.2:p.Asp216Asn
ENST00000270538.7:c.646G>A	ENSP00000270538.2:p.Asp216Asn
ENST00000595831.5:c.633G>A
ENST00000595876.5:c.*334G>A	ENSP00000471596.1:n.*334G>A
ENST00000597926.1:c.550G>A	ENSP00000469389.1:p.Asp184Asn
ENST00000598675.1:n.52G>A
ENST00000600748.5:n.631G>A
NM_006351.3:c.646G>A	NP_006342.2:p.Asp216Asn
NM_006351.4:c.646G>A MANE Select	NP_006342.2:p.Asp216Asn