Canonical Allele Identifier: CA403700144

Gene: TIMM44

Linked Data

• dbSNP Id: rs778965260
• MyVariant Identifiers: chr19:g.7998885C>A (hg19) ; chr19:g.7934000C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7934000C>A , CM000681.2:g.7934000C>A	GRCh38
NC_000019.9:g.7998885C>A , CM000681.1:g.7998885C>A	GRCh37
NC_000019.8:g.7904885C>A	NCBI36
NG_051180.1:g.14824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.547G>T MANE Select	ENSP00000270538.2:p.Val183Leu
ENST00000270538.7:c.547G>T	ENSP00000270538.2:p.Val183Leu
ENST00000595831.5:c.534G>T
ENST00000595876.5:c.*235G>T	ENSP00000471596.1:n.*235G>T
ENST00000597926.1:c.451G>T	ENSP00000469389.1:p.Val151Leu
ENST00000600748.5:n.532G>T
NM_006351.3:c.547G>T	NP_006342.2:p.Val183Leu
NM_006351.4:c.547G>T MANE Select	NP_006342.2:p.Val183Leu