Canonical Allele Identifier: CA9149781
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs746846534
ExAC: 19:7998795 A / G
gnomAD v2: 19-7998795-A-G
gnomAD v3: 19-7933910-A-G
gnomAD v4: 19-7933910-A-G
MyVariant Identifiers: chr19:g.7998795A>G (hg19) chr19:g.7933910A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933910A>G , CM000681.2:g.7933910A>G GRCh38
NC_000019.9:g.7998795A>G , CM000681.1:g.7998795A>G GRCh37
NC_000019.8:g.7904795A>G NCBI36
NG_051180.1:g.14914T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.637T>C MANE Select ENSP00000270538.2:p.Phe213Leu
ENST00000270538.7:c.637T>C ENSP00000270538.2:p.Phe213Leu
ENST00000595831.5:c.624T>C
ENST00000595876.5:c.*325T>C ENSP00000471596.1:n.*325T>C
ENST00000597926.1:c.541T>C ENSP00000469389.1:p.Phe181Leu
ENST00000598675.1:n.43T>C
ENST00000600748.5:n.622T>C
NM_006351.3:c.637T>C NP_006342.2:p.Phe213Leu
NM_006351.4:c.637T>C MANE Select NP_006342.2:p.Phe213Leu
Search 100 bp 5'
Search 100 bp 3'