Canonical Allele Identifier: CA7273746
Gene: DLST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74901104C>T , CM000676.2:g.74901104C>T GRCh38
NC_000014.8:g.75367807C>T , CM000676.1:g.75367807C>T GRCh37
NC_000014.7:g.74437560C>T NCBI36
NG_030313.1:g.24214C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334220.9:c.1098C>T MANE Select ENSP00000335304.4:p.Gly366=
ENST00000238671.11:c.*836C>T ENSP00000238671.7:n.*836C>T
ENST00000334220.8:c.1098C>T ENSP00000335304.4:p.Gly366=
ENST00000554612.5:c.*841C>T ENSP00000451670.1:n.*841C>T
ENST00000555089.5:c.*727C>T ENSP00000452422.1:n.*727C>T
NM_001933.4:c.1098C>T NP_001924.2:p.Gly366=
NR_033814.1:n.1103C>T
NR_045209.1:n.1112C>T
XR_001750184.2:n.1041C>T
NM_001933.5:c.1098C>T MANE Select NP_001924.2:p.Gly366=
NR_033814.2:n.1078C>T
NR_045209.2:n.1087C>T