Canonical Allele Identifier: CA141860007

Gene: LCA5

Linked Data

• ClinVar Variation Id: 2051680
• ClinVar RCV Id: RCV002904895 ; RCV003269318
• dbSNP Id: rs367583144
• gnomAD v3: 6-79487069-C-A
• gnomAD v4: 6-79487069-C-A
• MyVariant Identifiers: chr6:g.80196786C>A (hg19) ; chr6:g.79487069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79487069C>A , CM000668.2:g.79487069C>A	GRCh38
NC_000006.11:g.80196786C>A , CM000668.1:g.80196786C>A	GRCh37
NC_000006.10:g.80253505C>A	NCBI36
NG_016011.1:g.55362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.2029G>T MANE Select	ENSP00000358861.4:p.Asp677Tyr
ENST00000369846.8:c.2029G>T	ENSP00000358861.4:p.Asp677Tyr
ENST00000392959.5:c.2029G>T	ENSP00000376686.1:p.Asp677Tyr
NM_001122769.2:c.2029G>T	NP_001116241.1:p.Asp677Tyr
NM_181714.3:c.2029G>T	NP_859065.2:p.Asp677Tyr
XM_005248665.3:c.2029G>T	XP_005248722.1:p.Asp677Tyr
XM_011535504.1:c.2029G>T	XP_011533806.1:p.Asp677Tyr
XR_942715.1:n.544-1364C>A
XR_942716.1:n.506-1364C>A
XR_942717.1:n.778-1364C>A
XM_005248665.4:c.2029G>T	XP_005248722.1:p.Asp677Tyr
XR_001744213.1:n.2169-1364C>A
XR_001744214.1:n.2131-1364C>A
NM_001122769.3:c.2029G>T MANE Select	NP_001116241.1:p.Asp677Tyr
NM_181714.4:c.2029G>T	NP_859065.2:p.Asp677Tyr