Canonical Allele Identifier: CA9149801
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs778965260
gnomAD v2: 19-7998885-C-T
gnomAD v3: 19-7934000-C-T
gnomAD v4: 19-7934000-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934000C>T , CM000681.2:g.7934000C>T GRCh38
NC_000019.9:g.7998885C>T , CM000681.1:g.7998885C>T GRCh37
NC_000019.8:g.7904885C>T NCBI36
NG_051180.1:g.14824G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.547G>A MANE Select ENSP00000270538.2:p.Val183Met
ENST00000270538.7:c.547G>A ENSP00000270538.2:p.Val183Met
ENST00000595831.5:c.534G>A
ENST00000595876.5:c.*235G>A ENSP00000471596.1:n.*235G>A
ENST00000597926.1:c.451G>A ENSP00000469389.1:p.Val151Met
ENST00000600748.5:n.532G>A
NM_006351.3:c.547G>A NP_006342.2:p.Val183Met
NM_006351.4:c.547G>A MANE Select NP_006342.2:p.Val183Met