Canonical Allele Identifier: CA136915014

Gene: DXO

Linked Data

• dbSNP Id: rs368503645
• gnomAD v2: 6-31937654-C-G
• gnomAD v3: 6-31969877-C-G
• gnomAD v4: 6-31969877-C-G
• MyVariant Identifiers: chr6:g.31937654C>G (hg19) ; chr6:g.31969877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969877C>G , CM000668.2:g.31969877C>G	GRCh38
NC_000006.11:g.31937654C>G , CM000668.1:g.31937654C>G	GRCh37
NC_000006.10:g.32045633C>G	NCBI36
NG_032652.1:g.16074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337523.10:c.1191G>C MANE Select	ENSP00000337759.5:p.Ter397Tyr
ENST00000337523.9:c.1191G>C	ENSP00000337759.5:p.Ter397Tyr
ENST00000375349.7:c.1191G>C	ENSP00000364498.3:p.Ter397Tyr
ENST00000375356.7:c.1191G>C	ENSP00000364505.3:p.Ter397Tyr
ENST00000473976.1:n.1963G>C
ENST00000477826.5:n.2026G>C
ENST00000478221.5:n.1072G>C
ENST00000485557.5:n.1811G>C
ENST00000491327.5:n.1328G>C
ENST00000495340.5:c.524G>C
NM_005510.3:c.1191G>C	NP_005501.2:p.Ter397Tyr
XM_006715005.2:c.1191G>C	XP_006715068.1:p.Ter397Tyr
XM_006715007.2:c.639G>C	XP_006715070.1:p.Ter213Tyr
XR_926081.1:n.1664G>C
XR_926082.1:n.1691G>C
XM_006715005.3:c.1191G>C	XP_006715068.1:p.Ter397Tyr
XM_017010329.1:c.639G>C	XP_016865818.1:p.Ter213Tyr
XR_002956262.1:n.1423G>C
XR_002956263.1:n.1589G>C
XR_002956264.1:n.1489G>C
XR_926082.2:n.1431G>C
NM_005510.4:c.1191G>C MANE Select	NP_005501.2:p.Ter397Tyr
NM_001371205.1:c.639G>C	NP_001358134.1:p.Ter213Tyr
NM_001371206.1:c.639G>C	NP_001358135.1:p.Ter213Tyr