Canonical Allele Identifier: CA403699351

Gene: TIMM44

Linked Data

• gnomAD v4: 19-7933890-C-G
• MyVariant Identifiers: chr19:g.7998775C>G (hg19) ; chr19:g.7933890C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933890C>G , CM000681.2:g.7933890C>G	GRCh38
NC_000019.9:g.7998775C>G , CM000681.1:g.7998775C>G	GRCh37
NC_000019.8:g.7904775C>G	NCBI36
NG_051180.1:g.14934G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.657G>C MANE Select	ENSP00000270538.2:p.Lys219Asn
ENST00000270538.7:c.657G>C	ENSP00000270538.2:p.Lys219Asn
ENST00000595831.5:c.644G>C
ENST00000595876.5:c.*345G>C	ENSP00000471596.1:n.*345G>C
ENST00000597926.1:c.561G>C	ENSP00000469389.1:p.Lys187Asn
ENST00000598675.1:n.63G>C
ENST00000600748.5:n.642G>C
NM_006351.3:c.657G>C	NP_006342.2:p.Lys219Asn
NM_006351.4:c.657G>C MANE Select	NP_006342.2:p.Lys219Asn