Canonical Allele Identifier: CA3900957

Gene: LCA5

Linked Data

• ClinVar Variation Id: 839349
• ClinVar RCV Id: RCV001041082 ; RCV001272074
• dbSNP Id: rs577692224
• ExAC: 6:80201384 T / C
• gnomAD v2: 6-80201384-T-C
• gnomAD v3: 6-79491667-T-C
• gnomAD v4: 6-79491667-T-C
• MyVariant Identifiers: chr6:g.80201384T>C (hg19) ; chr6:g.79491667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79491667T>C , CM000668.2:g.79491667T>C	GRCh38
NC_000006.11:g.80201384T>C , CM000668.1:g.80201384T>C	GRCh37
NC_000006.10:g.80258103T>C	NCBI36
NG_016011.1:g.50764A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1019A>G MANE Select	ENSP00000358861.4:p.Lys340Arg
ENST00000369846.8:c.1019A>G	ENSP00000358861.4:p.Lys340Arg
ENST00000392959.5:c.1019A>G	ENSP00000376686.1:p.Lys340Arg
ENST00000467898.3:c.1019A>G	ENSP00000474463.1:p.Lys340Arg
NM_001122769.2:c.1019A>G	NP_001116241.1:p.Lys340Arg
NM_181714.3:c.1019A>G	NP_859065.2:p.Lys340Arg
XM_005248665.3:c.1019A>G	XP_005248722.1:p.Lys340Arg
XM_011535504.1:c.1019A>G	XP_011533806.1:p.Lys340Arg
XM_005248665.4:c.1019A>G	XP_005248722.1:p.Lys340Arg
NM_001122769.3:c.1019A>G MANE Select	NP_001116241.1:p.Lys340Arg
NM_181714.4:c.1019A>G	NP_859065.2:p.Lys340Arg