Canonical Allele Identifier: CA3901011

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79493612C>G , CM000668.2:g.79493612C>G	GRCh38
NC_000006.11:g.80203329C>G , CM000668.1:g.80203329C>G	GRCh37
NC_000006.10:g.80260048C>G	NCBI36
NG_016011.1:g.48819G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.858+1G>C MANE Select	NP_001116241.1:n.858+1G>C
ENST00000369846.9:c.858+1G>C MANE Select	ENSP00000358861.4:n.858+1G>C
NM_001122769.2:c.858+1G>C	NP_001116241.1:n.858+1G>C
NM_181714.3:c.858+1G>C	NP_859065.2:n.858+1G>C
NM_181714.4:c.858+1G>C	NP_859065.2:n.858+1G>C
ENST00000369846.8:c.858+1G>C	ENSP00000358861.4:n.858+1G>C
ENST00000392959.5:c.858+1G>C	ENSP00000376686.1:n.858+1G>C
ENST00000467898.3:c.858+1G>C	ENSP00000474463.1:n.858+1G>C
XM_005248665.3:c.858+1G>C	XP_005248722.1:n.858+1G>C
XM_005248665.4:c.858+1G>C	XP_005248722.1:n.858+1G>C
XM_011535504.1:c.858+1G>C	XP_011533806.1:n.858+1G>C