Canonical Allele Identifier: CA183429

Gene: LOXHD1

Linked Data

• ClinVar Variation Id: 178982
• ClinVar RCV Id: RCV000155760
• dbSNP Id: rs727504587
• ExAC: 18:44057163 C / A
• gnomAD v2: 18-44057163-C-A
• gnomAD v4: 18-46477200-C-A
• MyVariant Identifiers: chr18:g.44057163C>A (hg19) ; chr18:g.46477200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46477200C>A , CM000680.2:g.46477200C>A	GRCh38
NC_000018.9:g.44057163C>A , CM000680.1:g.44057163C>A	GRCh37
NC_000018.8:g.42311161C>A	NCBI36
NG_016646.1:g.184834G>T
NG_016646.2:g.184834G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000300591.11:c.3328G>T	ENSP00000300591.6:p.Ala1110Ser
ENST00000398705.7:c.*18G>T	ENSP00000381692.2:n.*18G>T
ENST00000579038.6:c.*18G>T	ENSP00000463285.1:n.*18G>T
ENST00000300591.10:c.3328G>T	ENSP00000300591.6:p.Ala1110Ser
ENST00000398705.6:c.*18G>T	ENSP00000381692.2:n.*18G>T
ENST00000579038.5:c.*18G>T	ENSP00000463285.1:n.*18G>T
NM_001145472.2:c.3328G>T	NP_001138944.1:p.Ala1110Ser
NM_001173129.1:c.*18G>T	NP_001166600.1:n.*18G>T
NM_001308013.1:c.*18G>T	NP_001294942.1:n.*18G>T
NM_001145472.3:c.3328G>T	NP_001138944.1:p.Ala1110Ser
NM_001173129.2:c.*18G>T	NP_001166600.1:n.*18G>T
NM_001308013.2:c.*18G>T	NP_001294942.1:n.*18G>T