Canonical Allele Identifier: CA9149794
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs372422745
ExAC: 19:7998838 G / A
gnomAD v2: 19-7998838-G-A
gnomAD v3: 19-7933953-G-A
gnomAD v4: 19-7933953-G-A
MyVariant Identifiers: chr19:g.7998838G>A (hg19) chr19:g.7933953G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933953G>A , CM000681.2:g.7933953G>A GRCh38
NC_000019.9:g.7998838G>A , CM000681.1:g.7998838G>A GRCh37
NC_000019.8:g.7904838G>A NCBI36
NG_051180.1:g.14871C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.594C>T MANE Select ENSP00000270538.2:p.Thr198=
ENST00000270538.7:c.594C>T ENSP00000270538.2:p.Thr198=
ENST00000595831.5:c.581C>T
ENST00000595876.5:c.*282C>T ENSP00000471596.1:n.*282C>T
ENST00000597926.1:c.498C>T ENSP00000469389.1:p.Thr166=
ENST00000600748.5:n.579C>T
NM_006351.3:c.594C>T NP_006342.2:p.Thr198=
NM_006351.4:c.594C>T MANE Select NP_006342.2:p.Thr198=
Search 100 bp 5'
Search 100 bp 3'