Canonical Allele Identifier: CA10622755

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358116
• ClinVar RCV Id: RCV000377966 ; RCV002512086
• dbSNP Id: rs370115829
• gnomAD v2: 6-80247088-C-G
• gnomAD v3: 6-79537371-C-G
• gnomAD v4: 6-79537371-C-G
• MyVariant Identifiers: chr6:g.80247088C>G (hg19) ; chr6:g.79537371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79537371C>G , CM000668.2:g.79537371C>G	GRCh38
NC_000006.11:g.80247088C>G , CM000668.1:g.80247088C>G	GRCh37
NC_000006.10:g.80303807C>G	NCBI36
NG_016011.1:g.5060G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.-398G>C MANE Select	ENSP00000358861.4:n.-398G>C
ENST00000369846.8:c.-398G>C	ENSP00000358861.4:n.-398G>C
ENST00000392959.5:c.-553G>C	ENSP00000376686.1:n.-553G>C
ENST00000467898.3:c.-320G>C	ENSP00000474463.1:n.-320G>C
NM_001122769.2:c.-398G>C	NP_001116241.1:n.-398G>C
NM_181714.3:c.-553G>C	NP_859065.2:n.-553G>C
XM_005248665.3:c.-447G>C	XP_005248722.1:n.-447G>C
XM_011535504.1:c.-504G>C	XP_011533806.1:n.-504G>C
XM_005248665.4:c.-447G>C	XP_005248722.1:n.-447G>C
NM_001122769.3:c.-398G>C MANE Select	NP_001116241.1:n.-398G>C
NM_181714.4:c.-553G>C	NP_859065.2:n.-553G>C