Canonical Allele Identifier: CA7273328

Gene: DLST

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74885633G>A , CM000676.2:g.74885633G>A	GRCh38
NC_000014.8:g.75352336G>A , CM000676.1:g.75352336G>A	GRCh37
NC_000014.7:g.74422089G>A	NCBI36
NG_030313.1:g.8743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334220.9:c.145G>A MANE Select	ENSP00000335304.4:p.Val49Ile
ENST00000238671.11:c.145G>A	ENSP00000238671.7:p.Val49Ile
ENST00000334220.8:c.145G>A	ENSP00000335304.4:p.Val49Ile
ENST00000554612.5:c.111G>A	ENSP00000451670.1:p.Leu37=
ENST00000554806.5:c.95+3009G>A	ENSP00000451957.1:n.95+3009G>A
ENST00000555071.5:n.177G>A
ENST00000555089.5:c.97+3009G>A	ENSP00000452422.1:n.97+3009G>A
ENST00000555190.5:n.93-3462G>A
ENST00000555459.5:n.140G>A
ENST00000555492.5:c.111G>A	ENSP00000452417.1:p.Leu37=
ENST00000555988.1:c.48G>A
ENST00000556190.5:n.174G>A
ENST00000556460.5:c.145G>A	ENSP00000451210.1:p.Val49Ile
ENST00000556582.5:n.149G>A
ENST00000557012.5:n.185G>A
ENST00000626051.1:c.97+3009G>A	ENSP00000487251.1:n.97+3009G>A
NM_001244883.1:c.145G>A	NP_001231812.1:p.Val49Ile
NM_001933.4:c.145G>A	NP_001924.2:p.Val49Ile
NR_033814.1:n.208G>A
NR_045209.1:n.160+3009G>A
XR_001750184.2:n.186G>A
NM_001933.5:c.145G>A MANE Select	NP_001924.2:p.Val49Ile
NM_001244883.2:c.145G>A	NP_001231812.1:p.Val49Ile
NR_033814.2:n.183G>A
NR_045209.2:n.135+3009G>A