Canonical Allele Identifier: CA7273711

Gene: DLST

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74900282C>G , CM000676.2:g.74900282C>G	GRCh38
NC_000014.8:g.75366985C>G , CM000676.1:g.75366985C>G	GRCh37
NC_000014.7:g.74436738C>G	NCBI36
NG_030313.1:g.23392C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001933.5:c.976-7C>G MANE Select	NP_001924.2:n.976-7C>G
ENST00000334220.9:c.976-7C>G MANE Select	ENSP00000335304.4:n.976-7C>G
NM_001933.4:c.976-7C>G	NP_001924.2:n.976-7C>G
NR_033814.1:n.981-7C>G
NR_033814.2:n.956-7C>G
NR_045209.1:n.990-7C>G
NR_045209.2:n.965-7C>G
ENST00000238671.11:c.*714-7C>G	ENSP00000238671.7:n.*714-7C>G
ENST00000334220.8:c.976-7C>G	ENSP00000335304.4:n.976-7C>G
ENST00000554612.5:c.*719-7C>G	ENSP00000451670.1:n.*719-7C>G
ENST00000555089.5:c.*605-7C>G	ENSP00000452422.1:n.*605-7C>G
XR_001750184.2:n.919-7C>G