Canonical Allele Identifier: CA198936565

Gene: DELEC1

Linked Data

• dbSNP Id: rs1040815167
• MyVariant Identifiers: chr9:g.118143783T>G (hg19) ; chr9:g.115381504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.115381504T>G , CM000671.2:g.115381504T>G	GRCh38
NC_000009.11:g.118143783T>G , CM000671.1:g.118143783T>G	GRCh37
NC_000009.10:g.117183604T>G	NCBI36
NG_027530.1:g.244687T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374016.5:c.13+4789T>G	ENSP00000363128.1:n.13+4789T>G
NM_017418.2:c.13+4789T>G	NP_059114.1:n.13+4789T>G
XM_011518753.1:c.13+4789T>G	XP_011517055.1:n.13+4789T>G
NR_163556.1:n.535+4789T>G