Canonical Allele Identifier: CA989920232

Gene: LOXHD1

Linked Data

• dbSNP Id: rs1598792712
• gnomAD v3: 18-46477132-T-C
• gnomAD v4: 18-46477132-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477132T>C , CM000680.2:g.46477132T>C	GRCh38
NC_000018.9:g.44057095T>C , CM000680.1:g.44057095T>C	GRCh37
NC_000018.8:g.42311093T>C	NCBI36
NG_016646.1:g.184902A>G
NG_016646.2:g.184902A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000300591.11:c.*51A>G	ENSP00000300591.6:n.*51A>G
ENST00000398705.7:c.*86A>G	ENSP00000381692.2:n.*86A>G
ENST00000579038.6:c.*86A>G	ENSP00000463285.1:n.*86A>G
ENST00000300591.10:c.*51A>G	ENSP00000300591.6:n.*51A>G
ENST00000398705.6:c.*86A>G	ENSP00000381692.2:n.*86A>G
ENST00000579038.5:c.*86A>G	ENSP00000463285.1:n.*86A>G
NM_001145472.2:c.*51A>G	NP_001138944.1:n.*51A>G
NM_001173129.1:c.*86A>G	NP_001166600.1:n.*86A>G
NM_001308013.1:c.*86A>G	NP_001294942.1:n.*86A>G
NM_001145472.3:c.*51A>G	NP_001138944.1:n.*51A>G
NM_001173129.2:c.*86A>G	NP_001166600.1:n.*86A>G
NM_001308013.2:c.*86A>G	NP_001294942.1:n.*86A>G