Canonical Allele Identifier: CA365507100
Gene: KIAA0408 HGNC NCBI
MTCL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.127447414T>C , CM000668.2:g.127447414T>C GRCh38
NC_000006.11:g.127768559T>C , CM000668.1:g.127768559T>C GRCh37
NC_000006.10:g.127810252T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014702.5:c.905A>G (KIAA0408) MANE Select NP_055517.3:p.Glu302Gly
ENST00000483725.8:c.905A>G (KIAA0408) MANE Select ENSP00000435150.2:p.Glu302Gly
NM_001012279.2:c.*1226A>G (MTCL3) NP_001012279.1:n.*1226A>G
NM_001012279.3:c.*1226A>G (MTCL3) NP_001012279.1:n.*1226A>G
NM_014702.4:c.905A>G (KIAA0408) NP_055517.3:p.Glu302Gly
NR_174482.1:n.4951A>G
ENST00000368281.1:n.1634A>G (KIAA0408)
ENST00000473298.6:c.2100A>G
ENST00000481848.6:c.*1226A>G ENSP00000455908.1:n.*1226A>G
ENST00000483725.7:c.905A>G (KIAA0408) ENSP00000435150.2:p.Glu302Gly