Canonical Allele Identifier: CA7273725

Gene: DLST

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74900386A>G , CM000676.2:g.74900386A>G	GRCh38
NC_000014.8:g.75367089A>G , CM000676.1:g.75367089A>G	GRCh37
NC_000014.7:g.74436842A>G	NCBI36
NG_030313.1:g.23496A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001933.5:c.1059+14A>G MANE Select	NP_001924.2:n.1059+14A>G
ENST00000334220.9:c.1059+14A>G MANE Select	ENSP00000335304.4:n.1059+14A>G
NM_001933.4:c.1059+14A>G	NP_001924.2:n.1059+14A>G
NR_033814.1:n.1064+14A>G
NR_033814.2:n.1039+14A>G
NR_045209.1:n.1073+14A>G
NR_045209.2:n.1048+14A>G
ENST00000238671.11:c.*797+14A>G	ENSP00000238671.7:n.*797+14A>G
ENST00000334220.8:c.1059+14A>G	ENSP00000335304.4:n.1059+14A>G
ENST00000554612.5:c.*802+14A>G	ENSP00000451670.1:n.*802+14A>G
ENST00000555089.5:c.*688+14A>G	ENSP00000452422.1:n.*688+14A>G
XR_001750184.2:n.1002+14A>G