Canonical Allele Identifier: CA631340616

Gene: TIMM44

Linked Data

• dbSNP Id: rs746595198
• gnomAD v2: 19-8008474-C-T
• gnomAD v4: 19-7943589-C-T
• MyVariant Identifiers: chr19:g.8008474C>T (hg19) ; chr19:g.7943589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7943589C>T , CM000681.2:g.7943589C>T	GRCh38
NC_000019.9:g.8008474C>T , CM000681.1:g.8008474C>T	GRCh37
NC_000019.8:g.7914474C>T	NCBI36
NG_051180.1:g.5235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.45+18G>A MANE Select	ENSP00000270538.2:n.45+18G>A
ENST00000270538.7:c.45+18G>A	ENSP00000270538.2:n.45+18G>A
ENST00000595831.5:c.29+18G>A
ENST00000595876.5:c.45+18G>A	ENSP00000471596.1:n.45+18G>A
ENST00000597926.1:c.45+18G>A	ENSP00000469389.1:n.45+18G>A
ENST00000600000.1:n.60+18G>A
ENST00000600748.5:n.30+18G>A
NM_006351.3:c.45+18G>A	NP_006342.2:n.45+18G>A
NM_006351.4:c.45+18G>A MANE Select	NP_006342.2:n.45+18G>A