Canonical Allele Identifier: CA390985959
Gene: DLK1 HGNC NCBI

Linked Data

dbSNP Id: rs1393802646
gnomAD v4: 14-100734249-A-C
MyVariant Identifiers: chr14:g.101200586A>C (hg19) chr14:g.100734249A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100734249A>C , CM000676.2:g.100734249A>C GRCh38
NC_000014.8:g.101200586A>C , CM000676.1:g.101200586A>C GRCh37
NC_000014.7:g.100270339A>C NCBI36
NG_016863.2:g.12385A>C
NG_016863.3:g.12385A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000341267.9:c.505A>C MANE Select ENSP00000340292.4:p.Ile169Leu
ENST00000331224.10:c.505A>C ENSP00000331081.6:p.Ile169Leu
ENST00000341267.8:c.505A>C ENSP00000340292.4:p.Ile169Leu
NM_003836.5:c.505A>C NP_003827.3:p.Ile169Leu
NM_001317172.1:c.505A>C NP_001304101.1:p.Ile169Leu
NM_003836.6:c.505A>C NP_003827.3:p.Ile169Leu
NM_001317172.2:c.505A>C NP_001304101.2:p.Ile169Leu
NM_003836.7:c.505A>C MANE Select NP_003827.4:p.Ile169Leu
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