Canonical Allele Identifier: CA403705748

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7943618-G-T
• MyVariant Identifiers: chr19:g.8008503G>T (hg19) ; chr19:g.7943618G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7943618G>T , CM000681.2:g.7943618G>T	GRCh38
NC_000019.9:g.8008503G>T , CM000681.1:g.8008503G>T	GRCh37
NC_000019.8:g.7914503G>T	NCBI36
NG_051180.1:g.5206C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.34C>A MANE Select	ENSP00000270538.2:p.Arg12Ser
ENST00000270538.7:c.34C>A	ENSP00000270538.2:p.Arg12Ser
ENST00000595831.5:c.18C>A
ENST00000595876.5:c.34C>A	ENSP00000471596.1:p.Arg12Ser
ENST00000597926.1:c.34C>A	ENSP00000469389.1:p.Arg12Ser
ENST00000600000.1:n.49C>A
ENST00000600748.5:n.19C>A
NM_006351.3:c.34C>A	NP_006342.2:p.Arg12Ser
NM_006351.4:c.34C>A MANE Select	NP_006342.2:p.Arg12Ser