Canonical Allele Identifier: CA2576602490
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7934006-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934006G>T , CM000681.2:g.7934006G>T GRCh38
NC_000019.9:g.7998891G>T , CM000681.1:g.7998891G>T GRCh37
NC_000019.8:g.7904891G>T NCBI36
NG_051180.1:g.14818C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.544-3C>A MANE Select ENSP00000270538.2:n.544-3C>A
ENST00000270538.7:c.544-3C>A ENSP00000270538.2:n.544-3C>A
ENST00000595831.5:c.531-3C>A
ENST00000595876.5:c.*232-3C>A ENSP00000471596.1:n.*232-3C>A
ENST00000597926.1:c.448-3C>A ENSP00000469389.1:n.448-3C>A
ENST00000600748.5:n.529-3C>A
NM_006351.3:c.544-3C>A NP_006342.2:n.544-3C>A
NM_006351.4:c.544-3C>A MANE Select NP_006342.2:n.544-3C>A
Search 100 bp 5'
Search 100 bp 3'