Canonical Allele Identifier: CA9149780

Gene: TIMM44

Linked Data

• dbSNP Id: rs779904923
• ExAC: 19:7998791 G / A
• gnomAD v2: 19-7998791-G-A
• gnomAD v3: 19-7933906-G-A
• gnomAD v4: 19-7933906-G-A
• MyVariant Identifiers: chr19:g.7998791G>A (hg19) ; chr19:g.7933906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933906G>A , CM000681.2:g.7933906G>A	GRCh38
NC_000019.9:g.7998791G>A , CM000681.1:g.7998791G>A	GRCh37
NC_000019.8:g.7904791G>A	NCBI36
NG_051180.1:g.14918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.641C>T MANE Select	ENSP00000270538.2:p.Ala214Val
ENST00000270538.7:c.641C>T	ENSP00000270538.2:p.Ala214Val
ENST00000595831.5:c.628C>T
ENST00000595876.5:c.*329C>T	ENSP00000471596.1:n.*329C>T
ENST00000597926.1:c.545C>T	ENSP00000469389.1:p.Ala182Val
ENST00000598675.1:n.47C>T
ENST00000600748.5:n.626C>T
NM_006351.3:c.641C>T	NP_006342.2:p.Ala214Val
NM_006351.4:c.641C>T MANE Select	NP_006342.2:p.Ala214Val