Canonical Allele Identifier: CA10616099

Gene: LOXL3 HTRA2

Linked Data

• ClinVar Variation Id: 337143
• ClinVar RCV Id: RCV000294376
• dbSNP Id: rs71640296
• gnomAD v2: 2-74760555-T-A
• gnomAD v3: 2-74533428-T-A
• gnomAD v4: 2-74533428-T-A
• MyVariant Identifiers: chr2:g.74760555T>A (hg19) ; chr2:g.74533428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.74533428T>A , CM000664.2:g.74533428T>A	GRCh38
NC_000002.11:g.74760555T>A , CM000664.1:g.74760555T>A	GRCh37
NC_000002.10:g.74614063T>A	NCBI36
NG_012163.1:g.9024T>A
NG_033037.1:g.1420A>T
NG_033047.1:g.25508A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264094.8:c.*178A>T (LOXL3) MANE Select	ENSP00000264094.3:n.*178A>T
ENST00000264094.7:c.*178A>T (LOXL3)	ENSP00000264094.3:n.*178A>T
ENST00000393937.6:c.*178A>T (LOXL3)	ENSP00000377512.2:n.*178A>T
ENST00000409249.5:c.*178A>T (LOXL3)	ENSP00000387103.1:n.*178A>T
ENST00000409549.5:c.*178A>T (LOXL3)	ENSP00000386696.1:n.*178A>T
ENST00000470907.6:n.1823A>T (LOXL3)
NM_001289164.1:c.*178A>T (LOXL3)	NP_001276093.1:n.*178A>T
NM_001289165.1:c.*178A>T (LOXL3)	NP_001276094.1:n.*178A>T
NM_013247.4:c.*443T>A (HTRA2)	NP_037379.1:n.*443T>A
NM_032603.3:c.*178A>T (LOXL3)	NP_115992.1:n.*178A>T
NM_145074.2:c.*443T>A (HTRA2)	NP_659540.1:n.*443T>A
XM_011533134.1:c.*178A>T (LOXL3)	XP_011531436.1:n.*178A>T
NM_001289164.2:c.*178A>T (LOXL3)	NP_001276093.1:n.*178A>T
NM_001321727.1:c.*443T>A (HTRA2)	NP_001308656.1:n.*443T>A
NM_001321728.1:c.*443T>A (HTRA2)	NP_001308657.1:n.*443T>A
NM_032603.4:c.*178A>T (LOXL3)	NP_115992.1:n.*178A>T
NR_135769.1:n.2462T>A (HTRA2)
NR_135770.1:n.1890T>A (HTRA2)
NR_135771.1:n.1874T>A (HTRA2)
NR_135772.1:n.1894T>A (HTRA2)
XM_011533134.2:c.*178A>T (LOXL3)	XP_011531436.1:n.*178A>T
XM_017005112.1:c.*178A>T (LOXL3)	XP_016860601.1:n.*178A>T
XM_024453176.1:c.*178A>T (LOXL3)	XP_024308944.1:n.*178A>T
XM_024453177.1:c.*178A>T (LOXL3)	XP_024308945.1:n.*178A>T
XM_024453178.1:c.*178A>T (LOXL3)	XP_024308946.1:n.*178A>T
NM_032603.5:c.*178A>T (LOXL3) MANE Select	NP_115992.1:n.*178A>T
NM_001289164.3:c.*178A>T (LOXL3)	NP_001276093.1:n.*178A>T
NM_001289165.2:c.*178A>T (LOXL3)	NP_001276094.1:n.*178A>T