Canonical Allele Identifier: CA3900950
Gene: LCA5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.79491606T>C
GRCh37 chr6:g.80201323T>C
gnomAD v2:
6:80201323 T / C
gnomAD v4:
chr6-79491606-T-C
Joint Max Group AF 0.00006764 (SAS)
Exomes Max Group AF 0.00007124 (SAS)
ClinVar Allele:
304184
ClinVar RCV:
RCV000285608
RCV002058633
ClinVar Variation:
358100
dbSNP:
779447463
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79491606T>C , CM000668.2:g.79491606T>C GRCh38
NC_000006.11:g.80201323T>C , CM000668.1:g.80201323T>C GRCh37
NC_000006.10:g.80258042T>C NCBI36
NG_016011.1:g.50825A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369846.9:c.1080A>G MANE Select ENSP00000358861.4:p.Glu360=
ENST00000369846.8:c.1080A>G ENSP00000358861.4:p.Glu360=
ENST00000392959.5:c.1080A>G ENSP00000376686.1:p.Glu360=
ENST00000467898.3:c.1080A>G ENSP00000474463.1:p.Glu360=
NM_001122769.2:c.1080A>G NP_001116241.1:p.Glu360=
NM_181714.3:c.1080A>G NP_859065.2:p.Glu360=
XM_005248665.3:c.1080A>G XP_005248722.1:p.Glu360=
XM_011535504.1:c.1080A>G XP_011533806.1:p.Glu360=
XM_005248665.4:c.1080A>G XP_005248722.1:p.Glu360=
NM_001122769.3:c.1080A>G MANE Select NP_001116241.1:p.Glu360=
NM_181714.4:c.1080A>G NP_859065.2:p.Glu360=
Search 100 bp 5'
Search 100 bp 3'