Canonical Allele Identifier: CA13964700
Gene: DLST HGNC NCBI

Linked Data

dbSNP Id: rs732765
gnomAD v2: 14-75365729-A-G
gnomAD v3: 14-74899026-A-G
gnomAD v4: 14-74899026-A-G
MyVariant Identifiers: chr14:g.75365729A>G (hg19) chr14:g.74899026A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74899026A>G , CM000676.2:g.74899026A>G GRCh38
NC_000014.8:g.75365729A>G , CM000676.1:g.75365729A>G GRCh37
NC_000014.7:g.74435482A>G NCBI36
NG_030313.1:g.22136A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000334220.9:c.901+527A>G MANE Select ENSP00000335304.4:n.901+527A>G
ENST00000238671.11:c.*639+527A>G ENSP00000238671.7:n.*639+527A>G
ENST00000334220.8:c.901+527A>G ENSP00000335304.4:n.901+527A>G
ENST00000554612.5:c.*644+527A>G ENSP00000451670.1:n.*644+527A>G
ENST00000555089.5:c.*530+527A>G ENSP00000452422.1:n.*530+527A>G
NM_001933.4:c.901+527A>G NP_001924.2:n.901+527A>G
NR_033814.1:n.906+527A>G
NR_045209.1:n.915+527A>G
XR_001750184.2:n.844+527A>G
NM_001933.5:c.901+527A>G MANE Select NP_001924.2:n.901+527A>G
NR_033814.2:n.881+527A>G
NR_045209.2:n.890+527A>G
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