Canonical Allele Identifier: CA403700118
Gene: TIMM44 HGNC NCBI

Linked Data

gnomAD v4: 19-7933994-A-C
MyVariant Identifiers: chr19:g.7998879A>C (hg19) chr19:g.7933994A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933994A>C , CM000681.2:g.7933994A>C GRCh38
NC_000019.9:g.7998879A>C , CM000681.1:g.7998879A>C GRCh37
NC_000019.8:g.7904879A>C NCBI36
NG_051180.1:g.14830T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.553T>G MANE Select ENSP00000270538.2:p.Ser185Ala
ENST00000270538.7:c.553T>G ENSP00000270538.2:p.Ser185Ala
ENST00000595831.5:c.540T>G
ENST00000595876.5:c.*241T>G ENSP00000471596.1:n.*241T>G
ENST00000597926.1:c.457T>G ENSP00000469389.1:p.Ser153Ala
ENST00000600748.5:n.538T>G
NM_006351.3:c.553T>G NP_006342.2:p.Ser185Ala
NM_006351.4:c.553T>G MANE Select NP_006342.2:p.Ser185Ala
Search 100 bp 5'
Search 100 bp 3'