Canonical Allele Identifier: CA2602750321

Gene: DIXDC1

Linked Data

• dbSNP Id: rs2137647305
• gnomAD v3: 11-112016621-C-G
• gnomAD v4: 11-112016621-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112016621C>G , CM000673.2:g.112016621C>G	GRCh38
NC_000011.9:g.111887345C>G , CM000673.1:g.111887345C>G	GRCh37
NC_000011.8:g.111392555C>G	NCBI36
NG_033127.1:g.94479C>G
NG_033127.2:g.94478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440460.7:c.1757-70C>G MANE Select	ENSP00000394352.3:n.1757-70C>G
ENST00000440460.6:c.1757-70C>G	ENSP00000394352.3:n.1757-70C>G
ENST00000526500.5:n.753-70C>G
ENST00000615255.1:c.1124-70C>G	ENSP00000480808.1:n.1124-70C>G
ENST00000618522.4:n.1110-70C>G
NM_001037954.3:c.1757-70C>G	NP_001033043.1:n.1757-70C>G
NM_033425.4:c.1124-70C>G	NP_219493.1:n.1124-70C>G
XM_005277726.3:c.1757-70C>G	XP_005277783.1:n.1757-70C>G
XM_005277727.3:c.1754-70C>G	XP_005277784.1:n.1754-70C>G
XM_005277728.3:c.1124-70C>G	XP_005277785.1:n.1124-70C>G
XM_011543045.1:c.875-70C>G	XP_011541347.1:n.875-70C>G
XM_011543046.1:c.869-70C>G	XP_011541348.1:n.869-70C>G
XM_017018466.2:c.1754-70C>G	XP_016873955.1:n.1754-70C>G
XM_017018467.1:c.1754-70C>G	XP_016873956.1:n.1754-70C>G
XM_017018468.1:c.875-70C>G	XP_016873957.1:n.875-70C>G
XM_017018469.1:c.869-70C>G	XP_016873958.1:n.869-70C>G
XM_024448742.1:c.1649-70C>G	XP_024304510.1:n.1649-70C>G
XM_024448743.1:c.1646-70C>G	XP_024304511.1:n.1646-70C>G
NM_001037954.4:c.1757-70C>G MANE Select	NP_001033043.1:n.1757-70C>G
NM_033425.5:c.1124-70C>G	NP_219493.1:n.1124-70C>G