Canonical Allele Identifier: CA198936561

Gene: DELEC1

Linked Data

• dbSNP Id: rs1038803795
• gnomAD v3: 9-115381467-C-T
• gnomAD v4: 9-115381467-C-T
• MyVariant Identifiers: chr9:g.118143746C>T (hg19) ; chr9:g.115381467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.115381467C>T , CM000671.2:g.115381467C>T	GRCh38
NC_000009.11:g.118143746C>T , CM000671.1:g.118143746C>T	GRCh37
NC_000009.10:g.117183567C>T	NCBI36
NG_027530.1:g.244650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374016.5:c.13+4752C>T	ENSP00000363128.1:n.13+4752C>T
NM_017418.2:c.13+4752C>T	NP_059114.1:n.13+4752C>T
XM_011518753.1:c.13+4752C>T	XP_011517055.1:n.13+4752C>T
NR_163556.1:n.535+4752C>T