Canonical Allele Identifier: CA390986117

Gene: DLK1

Linked Data

• MyVariant Identifiers: chr14:g.101200621G>C (hg19) ; chr14:g.100734284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100734284G>C , CM000676.2:g.100734284G>C	GRCh38
NC_000014.8:g.101200621G>C , CM000676.1:g.101200621G>C	GRCh37
NC_000014.7:g.100270374G>C	NCBI36
NG_016863.2:g.12420G>C
NG_016863.3:g.12420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341267.9:c.540G>C MANE Select	ENSP00000340292.4:p.Glu180Asp
ENST00000331224.10:c.540G>C	ENSP00000331081.6:p.Glu180Asp
ENST00000341267.8:c.540G>C	ENSP00000340292.4:p.Glu180Asp
NM_003836.5:c.540G>C	NP_003827.3:p.Glu180Asp
NM_001317172.1:c.540G>C	NP_001304101.1:p.Glu180Asp
NM_003836.6:c.540G>C	NP_003827.3:p.Glu180Asp
NM_001317172.2:c.540G>C	NP_001304101.2:p.Glu180Asp
NM_003836.7:c.540G>C MANE Select	NP_003827.4:p.Glu180Asp