Canonical Allele Identifier: CA3901128

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358104
• ClinVar RCV Id: RCV000400678 ; RCV001199700 ; RCV001553635 ; RCV001861293
• dbSNP Id: rs200395970
• ExAC: 6:80223248 T / G
• gnomAD v2: 6-80223248-T-G
• gnomAD v3: 6-79513531-T-G
• gnomAD v4: 6-79513531-T-G
• MyVariant Identifiers: chr6:g.80223248T>G (hg19) ; chr6:g.79513531T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79513531T>G , CM000668.2:g.79513531T>G	GRCh38
NC_000006.11:g.80223248T>G , CM000668.1:g.80223248T>G	GRCh37
NC_000006.10:g.80279967T>G	NCBI36
NG_016011.1:g.28900A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.401A>C MANE Select	ENSP00000358861.4:p.Lys134Thr
ENST00000369846.8:c.401A>C	ENSP00000358861.4:p.Lys134Thr
ENST00000392959.5:c.401A>C	ENSP00000376686.1:p.Lys134Thr
ENST00000467898.3:c.401A>C	ENSP00000474463.1:p.Lys134Thr
NM_001122769.2:c.401A>C	NP_001116241.1:p.Lys134Thr
NM_181714.3:c.401A>C	NP_859065.2:p.Lys134Thr
XM_005248665.3:c.401A>C	XP_005248722.1:p.Lys134Thr
XM_011535504.1:c.401A>C	XP_011533806.1:p.Lys134Thr
XM_005248665.4:c.401A>C	XP_005248722.1:p.Lys134Thr
NM_001122769.3:c.401A>C MANE Select	NP_001116241.1:p.Lys134Thr
NM_181714.4:c.401A>C	NP_859065.2:p.Lys134Thr