Canonical Allele Identifier: CA266886380

Gene: DLK1

Linked Data

• dbSNP Id: rs764525849
• gnomAD v4: 14-100734300-A-G
• MyVariant Identifiers: chr14:g.101200637A>G (hg19) ; chr14:g.100734300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100734300A>G , CM000676.2:g.100734300A>G	GRCh38
NC_000014.8:g.101200637A>G , CM000676.1:g.101200637A>G	GRCh37
NC_000014.7:g.100270390A>G	NCBI36
NG_016863.2:g.12436A>G
NG_016863.3:g.12436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341267.9:c.556A>G MANE Select	ENSP00000340292.4:p.Thr186Ala
ENST00000331224.10:c.556A>G	ENSP00000331081.6:p.Thr186Ala
ENST00000341267.8:c.556A>G	ENSP00000340292.4:p.Thr186Ala
NM_003836.5:c.556A>G	NP_003827.3:p.Thr186Ala
NM_001317172.1:c.556A>G	NP_001304101.1:p.Thr186Ala
NM_003836.6:c.556A>G	NP_003827.3:p.Thr186Ala
NM_001317172.2:c.556A>G	NP_001304101.2:p.Thr186Ala
NM_003836.7:c.556A>G MANE Select	NP_003827.4:p.Thr186Ala