Canonical Allele Identifier: CA198936589
Gene: DELEC1 HGNC NCBI

Linked Data

dbSNP Id: rs558754580
gnomAD v3: 9-115381691-G-A
gnomAD v4: 9-115381691-G-A
MyVariant Identifiers: chr9:g.118143970G>A (hg19) chr9:g.115381691G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.115381691G>A , CM000671.2:g.115381691G>A GRCh38
NC_000009.11:g.118143970G>A , CM000671.1:g.118143970G>A GRCh37
NC_000009.10:g.117183791G>A NCBI36
NG_027530.1:g.244874G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374016.5:c.13+4976G>A ENSP00000363128.1:n.13+4976G>A
NM_017418.2:c.13+4976G>A NP_059114.1:n.13+4976G>A
XM_011518753.1:c.13+4976G>A XP_011517055.1:n.13+4976G>A
NR_163556.1:n.535+4976G>A
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