Canonical Allele Identifier: CA3900736

Gene: LCA5

Linked Data

• ClinVar Variation Id: 358088
• ClinVar RCV Id: RCV000358431 ; RCV001423821
• dbSNP Id: rs768387283
• ExAC: 6:80196787 G / A
• gnomAD v2: 6-80196787-G-A
• gnomAD v4: 6-79487070-G-A
• MyVariant Identifiers: chr6:g.80196787G>A (hg19) ; chr6:g.79487070G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79487070G>A , CM000668.2:g.79487070G>A	GRCh38
NC_000006.11:g.80196787G>A , CM000668.1:g.80196787G>A	GRCh37
NC_000006.10:g.80253506G>A	NCBI36
NG_016011.1:g.55361C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.2028C>T MANE Select	ENSP00000358861.4:p.Asp676=
ENST00000369846.8:c.2028C>T	ENSP00000358861.4:p.Asp676=
ENST00000392959.5:c.2028C>T	ENSP00000376686.1:p.Asp676=
NM_001122769.2:c.2028C>T	NP_001116241.1:p.Asp676=
NM_181714.3:c.2028C>T	NP_859065.2:p.Asp676=
XM_005248665.3:c.2028C>T	XP_005248722.1:p.Asp676=
XM_011535504.1:c.2028C>T	XP_011533806.1:p.Asp676=
XR_942715.1:n.544-1363G>A
XR_942716.1:n.506-1363G>A
XR_942717.1:n.778-1363G>A
XM_005248665.4:c.2028C>T	XP_005248722.1:p.Asp676=
XR_001744213.1:n.2169-1363G>A
XR_001744214.1:n.2131-1363G>A
NM_001122769.3:c.2028C>T MANE Select	NP_001116241.1:p.Asp676=
NM_181714.4:c.2028C>T	NP_859065.2:p.Asp676=