Canonical Allele Identifier: CA403700015
Gene: TIMM44 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933979T>A , CM000681.2:g.7933979T>A GRCh38
NC_000019.9:g.7998864T>A , CM000681.1:g.7998864T>A GRCh37
NC_000019.8:g.7904864T>A NCBI36
NG_051180.1:g.14845A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.568A>T MANE Select ENSP00000270538.2:p.Ile190Phe
ENST00000270538.7:c.568A>T ENSP00000270538.2:p.Ile190Phe
ENST00000595831.5:c.555A>T
ENST00000595876.5:c.*256A>T ENSP00000471596.1:n.*256A>T
ENST00000597926.1:c.472A>T ENSP00000469389.1:p.Ile158Phe
ENST00000600748.5:n.553A>T
NM_006351.3:c.568A>T NP_006342.2:p.Ile190Phe
NM_006351.4:c.568A>T MANE Select NP_006342.2:p.Ile190Phe