Canonical Allele Identifier: CA7273568

Gene: DLST

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74893363C>T , CM000676.2:g.74893363C>T	GRCh38
NC_000014.8:g.75360066C>T , CM000676.1:g.75360066C>T	GRCh37
NC_000014.7:g.74429819C>T	NCBI36
NG_030313.1:g.16473C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001933.5:c.611C>T MANE Select	NP_001924.2:p.Pro204Leu
ENST00000334220.9:c.611C>T MANE Select	ENSP00000335304.4:p.Pro204Leu
NM_001933.4:c.611C>T	NP_001924.2:p.Pro204Leu
NR_033814.1:n.616C>T
NR_033814.2:n.591C>T
NR_045209.1:n.625C>T
NR_045209.2:n.600C>T
ENST00000238671.11:c.*349C>T	ENSP00000238671.7:n.*349C>T
ENST00000334220.8:c.611C>T	ENSP00000335304.4:p.Pro204Leu
ENST00000554612.5:c.*354C>T	ENSP00000451670.1:n.*354C>T
ENST00000554806.5:c.560C>T	ENSP00000451957.1:p.Pro187Leu
ENST00000555089.5:c.*240C>T	ENSP00000452422.1:n.*240C>T
ENST00000555190.5:n.557C>T
ENST00000555988.1:c.559C>T
XR_001750184.2:n.652C>T