Canonical Allele Identifier: CA390442134
Gene: DLST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74881989C>T , CM000676.2:g.74881989C>T GRCh38
NC_000014.8:g.75348692C>T , CM000676.1:g.75348692C>T GRCh37
NC_000014.7:g.74418445C>T NCBI36
NG_030313.1:g.5099C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001933.5:c.36C>T MANE Select NP_001924.2:p.Phe12=
ENST00000334220.9:c.36C>T MANE Select ENSP00000335304.4:p.Phe12=
NM_001244883.1:c.36C>T NP_001231812.1:p.Phe12=
NM_001244883.2:c.36C>T NP_001231812.1:p.Phe12=
NM_001933.4:c.36C>T NP_001924.2:p.Phe12=
NR_033814.1:n.99C>T
NR_033814.2:n.74C>T
NR_045209.1:n.99C>T
NR_045209.2:n.74C>T
ENST00000238671.11:c.36C>T ENSP00000238671.7:p.Phe12=
ENST00000334220.8:c.36C>T ENSP00000335304.4:p.Phe12=
ENST00000554612.5:c.36C>T ENSP00000451670.1:p.Phe12=
ENST00000554806.5:c.34C>T ENSP00000451957.1:p.Gln12Ter
ENST00000555071.5:n.68C>T
ENST00000555089.5:c.36C>T ENSP00000452422.1:p.Phe12=
ENST00000555190.5:n.65C>T
ENST00000555459.5:n.65C>T
ENST00000555492.5:c.36C>T ENSP00000452417.1:p.Phe12=
ENST00000556190.5:n.65C>T
ENST00000556460.5:c.36C>T ENSP00000451210.1:p.Phe12=
ENST00000556582.5:n.74C>T
ENST00000557012.5:n.76C>T
ENST00000626051.1:c.36C>T ENSP00000487251.1:p.Phe12=
XR_001750184.2:n.77C>T