Canonical Allele Identifier: CA403699278
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7933883-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933883T>C , CM000681.2:g.7933883T>C GRCh38
NC_000019.9:g.7998768T>C , CM000681.1:g.7998768T>C GRCh37
NC_000019.8:g.7904768T>C NCBI36
NG_051180.1:g.14941A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.664A>G MANE Select ENSP00000270538.2:p.Lys222Glu
ENST00000270538.7:c.664A>G ENSP00000270538.2:p.Lys222Glu
ENST00000595831.5:c.651A>G
ENST00000595876.5:c.*352A>G ENSP00000471596.1:n.*352A>G
ENST00000597926.1:c.568A>G ENSP00000469389.1:p.Lys190Glu
ENST00000598675.1:n.70A>G
ENST00000600748.5:n.649A>G
NM_006351.3:c.664A>G NP_006342.2:p.Lys222Glu
NM_006351.4:c.664A>G MANE Select NP_006342.2:p.Lys222Glu