Canonical Allele Identifier: CA198936585
Gene: DELEC1 HGNC NCBI

Linked Data

dbSNP Id: rs544552925
gnomAD v2: 9-118143917-C-A
gnomAD v3: 9-115381638-C-A
gnomAD v4: 9-115381638-C-A
MyVariant Identifiers: chr9:g.118143917C>A (hg19) chr9:g.115381638C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.115381638C>A , CM000671.2:g.115381638C>A GRCh38
NC_000009.11:g.118143917C>A , CM000671.1:g.118143917C>A GRCh37
NC_000009.10:g.117183738C>A NCBI36
NG_027530.1:g.244821C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374016.5:c.13+4923C>A ENSP00000363128.1:n.13+4923C>A
NM_017418.2:c.13+4923C>A NP_059114.1:n.13+4923C>A
XM_011518753.1:c.13+4923C>A XP_011517055.1:n.13+4923C>A
NR_163556.1:n.535+4923C>A
Search 100 bp 5'
Search 100 bp 3'