Canonical Allele Identifier: CA356273407
Gene: CYTL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5015157C>A , CM000666.2:g.5015157C>A GRCh38
NC_000004.11:g.5016884C>A , CM000666.1:g.5016884C>A GRCh37
NC_000004.10:g.5067785C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000307746.9:c.405G>T MANE Select ENSP00000303550.4:p.Gln135His
ENST00000307746.8:c.405G>T ENSP00000303550.4:p.Gln135His
ENST00000506508.1:c.223G>T
ENST00000509419.1:c.272G>T
NM_018659.2:c.405G>T NP_061129.1:p.Gln135His
XR_925085.1:n.149-4766C>A
XR_925086.1:n.149-4766C>A
XR_925087.1:n.149-4766C>A
XM_017008299.1:c.*55G>T XP_016863788.1:n.*55G>T
NM_018659.3:c.405G>T MANE Select NP_061129.1:p.Gln135His