Canonical Allele Identifier: CA9149822
Gene: TIMM44 HGNC NCBI

Linked Data

dbSNP Id: rs374735523
ExAC: 19:7998936 G / A
gnomAD v2: 19-7998936-G-A
gnomAD v4: 19-7934051-G-A
MyVariant Identifiers: chr19:g.7998936G>A (hg19) chr19:g.7934051G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934051G>A , CM000681.2:g.7934051G>A GRCh38
NC_000019.9:g.7998936G>A , CM000681.1:g.7998936G>A GRCh37
NC_000019.8:g.7904936G>A NCBI36
NG_051180.1:g.14773C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.543+38C>T MANE Select ENSP00000270538.2:n.543+38C>T
ENST00000270538.7:c.543+38C>T ENSP00000270538.2:n.543+38C>T
ENST00000595831.5:c.530+38C>T
ENST00000595876.5:c.*231+38C>T ENSP00000471596.1:n.*231+38C>T
ENST00000597926.1:c.447+38C>T ENSP00000469389.1:n.447+38C>T
ENST00000600748.5:n.528+38C>T
NM_006351.3:c.543+38C>T NP_006342.2:n.543+38C>T
NM_006351.4:c.543+38C>T MANE Select NP_006342.2:n.543+38C>T
Search 100 bp 5'
Search 100 bp 3'