Canonical Allele Identifier: CA2679483121

Gene: LCA5

Linked Data

• gnomAD v4: 6-79491566-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79491566A>G , CM000668.2:g.79491566A>G	GRCh38
NC_000006.11:g.80201283A>G , CM000668.1:g.80201283A>G	GRCh37
NC_000006.10:g.80258002A>G	NCBI36
NG_016011.1:g.50865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1098+22T>C MANE Select	ENSP00000358861.4:n.1098+22T>C
ENST00000369846.8:c.1098+22T>C	ENSP00000358861.4:n.1098+22T>C
ENST00000392959.5:c.1098+22T>C	ENSP00000376686.1:n.1098+22T>C
ENST00000467898.3:c.1098+22T>C	ENSP00000474463.1:n.1098+22T>C
NM_001122769.2:c.1098+22T>C	NP_001116241.1:n.1098+22T>C
NM_181714.3:c.1098+22T>C	NP_859065.2:n.1098+22T>C
XM_005248665.3:c.1098+22T>C	XP_005248722.1:n.1098+22T>C
XM_011535504.1:c.1098+22T>C	XP_011533806.1:n.1098+22T>C
XM_005248665.4:c.1098+22T>C	XP_005248722.1:n.1098+22T>C
NM_001122769.3:c.1098+22T>C MANE Select	NP_001116241.1:n.1098+22T>C
NM_181714.4:c.1098+22T>C	NP_859065.2:n.1098+22T>C