Canonical Allele Identifier: CA629502707

Gene: LOXHD1

Linked Data

• dbSNP Id: rs1235620782
• gnomAD v2: 18-44159545-A-G
• gnomAD v4: 18-46579582-A-G
• MyVariant Identifiers: chr18:g.44159545A>G (hg19) ; chr18:g.46579582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46579582A>G , CM000680.2:g.46579582A>G	GRCh38
NC_000018.9:g.44159545A>G , CM000680.1:g.44159545A>G	GRCh37
NC_000018.8:g.42413543A>G	NCBI36
NG_016646.1:g.82452T>C
NG_016646.2:g.82452T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000642948.1:c.1809+48T>C MANE Select	ENSP00000496347.1:n.1809+48T>C
ENST00000335730.6:n.1122+48T>C
ENST00000441551.6:c.1809+48T>C	ENSP00000387621.2:n.1809+48T>C
ENST00000536736.5:c.1809+48T>C	ENSP00000444586.1:n.1809+48T>C
NM_144612.6:c.1809+48T>C	NP_653213.6:n.1809+48T>C
XM_011525803.1:c.1809+48T>C	XP_011524105.1:n.1809+48T>C
XM_011525804.1:c.-30-1715T>C	XP_011524106.1:n.-30-1715T>C
XM_011525804.2:c.-30-1715T>C	XP_011524106.1:n.-30-1715T>C
XM_017025548.1:c.1809+48T>C	XP_016881037.1:n.1809+48T>C
XM_024451084.1:c.291+48T>C	XP_024306852.1:n.291+48T>C
NM_001384474.1:c.1809+48T>C MANE Select	NP_001371403.1:n.1809+48T>C
NM_144612.7:c.1809+48T>C	NP_653213.6:n.1809+48T>C