Canonical Allele Identifier: CA364642197

Gene: LCA5

Linked Data

• MyVariant Identifiers: chr6:g.80198794T>C (hg19) ; chr6:g.79489077T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489077T>C , CM000668.2:g.79489077T>C	GRCh38
NC_000006.11:g.80198794T>C , CM000668.1:g.80198794T>C	GRCh37
NC_000006.10:g.80255513T>C	NCBI36
NG_016011.1:g.53354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1231+7A>G MANE Select	ENSP00000358861.4:n.1231+7A>G
ENST00000369846.8:c.1231+7A>G	ENSP00000358861.4:n.1231+7A>G
ENST00000392959.5:c.1231+7A>G	ENSP00000376686.1:n.1231+7A>G
ENST00000467898.3:c.1238A>G	ENSP00000474463.1:p.Lys413Arg
NM_001122769.2:c.1231+7A>G	NP_001116241.1:n.1231+7A>G
NM_181714.3:c.1231+7A>G	NP_859065.2:n.1231+7A>G
XM_005248665.3:c.1231+7A>G	XP_005248722.1:n.1231+7A>G
XM_011535504.1:c.1231+7A>G	XP_011533806.1:n.1231+7A>G
XR_942715.1:n.1188T>C
XR_942716.1:n.1150T>C
XR_942717.1:n.1422T>C
XM_005248665.4:c.1231+7A>G	XP_005248722.1:n.1231+7A>G
XR_001744213.1:n.2813T>C
XR_001744214.1:n.2775T>C
NM_001122769.3:c.1231+7A>G MANE Select	NP_001116241.1:n.1231+7A>G
NM_181714.4:c.1231+7A>G	NP_859065.2:n.1231+7A>G