Canonical Allele Identifier: CA14609217

Gene: LOXHD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46545004A>G , CM000680.2:g.46545004A>G	GRCh38
NC_000018.9:g.44124967A>G , CM000680.1:g.44124967A>G	GRCh37
NC_000018.8:g.42378965A>G	NCBI36
NG_016646.1:g.117030T>C
NG_016646.2:g.117030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300591.11:c.286+313T>C	ENSP00000300591.6:n.286+313T>C
ENST00000579038.6:c.-3+313T>C	ENSP00000463285.1:n.-3+313T>C
ENST00000582408.6:c.286+313T>C	ENSP00000461964.1:n.286+313T>C
ENST00000642948.1:c.3619+313T>C MANE Select	ENSP00000496347.1:n.3619+313T>C
ENST00000300591.10:c.286+313T>C	ENSP00000300591.6:n.286+313T>C
ENST00000335730.6:n.2932+313T>C
ENST00000441551.6:c.3001+313T>C	ENSP00000387621.2:n.3001+313T>C
ENST00000536111.1:c.325+313T>C	ENSP00000440060.1:n.325+313T>C
ENST00000536736.5:c.3619+313T>C	ENSP00000444586.1:n.3619+313T>C
ENST00000579038.5:c.-3+313T>C	ENSP00000463285.1:n.-3+313T>C
ENST00000582408.5:c.286+313T>C	ENSP00000461964.1:n.286+313T>C
NM_001145472.2:c.286+313T>C	NP_001138944.1:n.286+313T>C
NM_001308013.1:c.-3+313T>C	NP_001294942.1:n.-3+313T>C
NM_144612.6:c.3619+313T>C	NP_653213.6:n.3619+313T>C
XM_006722388.2:c.418+313T>C	XP_006722451.1:n.418+313T>C
XM_006722389.2:c.286+313T>C	XP_006722452.1:n.286+313T>C
XM_006722390.2:c.286+313T>C	XP_006722453.1:n.286+313T>C
XM_006722391.2:c.418+313T>C	XP_006722454.1:n.418+313T>C
XM_011525803.1:c.3619+313T>C	XP_011524105.1:n.3619+313T>C
XM_011525804.1:c.1780+313T>C	XP_011524106.1:n.1780+313T>C
XM_011525805.1:c.283+313T>C	XP_011524107.1:n.283+313T>C
XM_011525806.1:c.-3+313T>C	XP_011524108.1:n.-3+313T>C
XM_011525807.1:c.-3+313T>C	XP_011524109.1:n.-3+313T>C
XM_011525809.1:c.-3+313T>C	XP_011524111.1:n.-3+313T>C
XM_006722388.3:c.418+313T>C	XP_006722451.1:n.418+313T>C
XM_006722389.3:c.286+313T>C	XP_006722452.1:n.286+313T>C
XM_006722390.3:c.286+313T>C	XP_006722453.1:n.286+313T>C
XM_006722391.3:c.418+313T>C	XP_006722454.1:n.418+313T>C
XM_011525804.2:c.1780+313T>C	XP_011524106.1:n.1780+313T>C
XM_017025548.1:c.3001+313T>C	XP_016881037.1:n.3001+313T>C
XM_024451084.1:c.2101+313T>C	XP_024306852.1:n.2101+313T>C
XM_024451085.1:c.283+313T>C	XP_024306853.1:n.283+313T>C
XM_024451086.1:c.-3+313T>C	XP_024306854.1:n.-3+313T>C
XM_024451087.1:c.-3+313T>C	XP_024306855.1:n.-3+313T>C
XM_024451088.1:c.-3+313T>C	XP_024306856.1:n.-3+313T>C
NM_001145472.3:c.286+313T>C	NP_001138944.1:n.286+313T>C
NM_001308013.2:c.-3+313T>C	NP_001294942.1:n.-3+313T>C
NM_001384474.1:c.3619+313T>C MANE Select	NP_001371403.1:n.3619+313T>C
NM_144612.7:c.3619+313T>C	NP_653213.6:n.3619+313T>C