Canonical Allele Identifier: CA9149802
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs746009620
ExAC: 19:7998886 C / G
gnomAD v2: 19-7998886-C-G
gnomAD v4: 19-7934001-C-G
MyVariant Identifiers: chr19:g.7998886C>G (hg19) chr19:g.7934001C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934001C>G , CM000681.2:g.7934001C>G GRCh38
NC_000019.9:g.7998886C>G , CM000681.1:g.7998886C>G GRCh37
NC_000019.8:g.7904886C>G NCBI36
NG_051180.1:g.14823G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.546G>C MANE Select ENSP00000270538.2:p.Gly182=
ENST00000270538.7:c.546G>C ENSP00000270538.2:p.Gly182=
ENST00000595831.5:c.533G>C
ENST00000595876.5:c.*234G>C ENSP00000471596.1:n.*234G>C
ENST00000597926.1:c.450G>C ENSP00000469389.1:p.Gly150=
ENST00000600748.5:n.531G>C
NM_006351.3:c.546G>C NP_006342.2:p.Gly182=
NM_006351.4:c.546G>C MANE Select NP_006342.2:p.Gly182=
Search 100 bp 5'
Search 100 bp 3'