Canonical Allele Identifier: CA3900789

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79487442T>C , CM000668.2:g.79487442T>C	GRCh38
NC_000006.11:g.80197159T>C , CM000668.1:g.80197159T>C	GRCh37
NC_000006.10:g.80253878T>C	NCBI36
NG_016011.1:g.54989A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.1656A>G MANE Select	NP_001116241.1:p.Ala552=
ENST00000369846.9:c.1656A>G MANE Select	ENSP00000358861.4:p.Ala552=
NM_001122769.2:c.1656A>G	NP_001116241.1:p.Ala552=
NM_181714.3:c.1656A>G	NP_859065.2:p.Ala552=
NM_181714.4:c.1656A>G	NP_859065.2:p.Ala552=
ENST00000369846.8:c.1656A>G	ENSP00000358861.4:p.Ala552=
ENST00000392959.5:c.1656A>G	ENSP00000376686.1:p.Ala552=
XM_005248665.3:c.1656A>G	XP_005248722.1:p.Ala552=
XM_005248665.4:c.1656A>G	XP_005248722.1:p.Ala552=
XM_011535504.1:c.1656A>G	XP_011533806.1:p.Ala552=
XR_001744213.1:n.2169-991T>C
XR_001744214.1:n.2131-991T>C
XR_942715.1:n.544-991T>C
XR_942716.1:n.506-991T>C
XR_942717.1:n.778-991T>C