Canonical Allele Identifier: CA324027
Gene: TIMM44 HGNC NCBI

Linked Data

ClinVar Variation Id: 215258
ClinVar RCV Id: RCV000199481
dbSNP Id: rs768509913
ExAC: 19:8008476 C / A
gnomAD v2: 19-8008476-C-A
gnomAD v3: 19-7943591-C-A
gnomAD v4: 19-7943591-C-A
MyVariant Identifiers: chr19:g.8008476C>A (hg19) chr19:g.7943591C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7943591C>A , CM000681.2:g.7943591C>A GRCh38
NC_000019.9:g.8008476C>A , CM000681.1:g.8008476C>A GRCh37
NC_000019.8:g.7914476C>A NCBI36
NG_051180.1:g.5233G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270538.8:c.45+16G>T MANE Select ENSP00000270538.2:n.45+16G>T
ENST00000270538.7:c.45+16G>T ENSP00000270538.2:n.45+16G>T
ENST00000595831.5:c.29+16G>T
ENST00000595876.5:c.45+16G>T ENSP00000471596.1:n.45+16G>T
ENST00000597926.1:c.45+16G>T ENSP00000469389.1:n.45+16G>T
ENST00000600000.1:n.60+16G>T
ENST00000600748.5:n.30+16G>T
NM_006351.3:c.45+16G>T NP_006342.2:n.45+16G>T
NM_006351.4:c.45+16G>T MANE Select NP_006342.2:n.45+16G>T
Search 100 bp 5'
Search 100 bp 3'