Canonical Allele Identifier: CA364644041

Gene: LCA5

Linked Data

• MyVariant Identifiers: chr6:g.80201388A>T (hg19) ; chr6:g.79491671A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79491671A>T , CM000668.2:g.79491671A>T	GRCh38
NC_000006.11:g.80201388A>T , CM000668.1:g.80201388A>T	GRCh37
NC_000006.10:g.80258107A>T	NCBI36
NG_016011.1:g.50760T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1015T>A MANE Select	ENSP00000358861.4:p.Phe339Ile
ENST00000369846.8:c.1015T>A	ENSP00000358861.4:p.Phe339Ile
ENST00000392959.5:c.1015T>A	ENSP00000376686.1:p.Phe339Ile
ENST00000467898.3:c.1015T>A	ENSP00000474463.1:p.Phe339Ile
NM_001122769.2:c.1015T>A	NP_001116241.1:p.Phe339Ile
NM_181714.3:c.1015T>A	NP_859065.2:p.Phe339Ile
XM_005248665.3:c.1015T>A	XP_005248722.1:p.Phe339Ile
XM_011535504.1:c.1015T>A	XP_011533806.1:p.Phe339Ile
XM_005248665.4:c.1015T>A	XP_005248722.1:p.Phe339Ile
NM_001122769.3:c.1015T>A MANE Select	NP_001116241.1:p.Phe339Ile
NM_181714.4:c.1015T>A	NP_859065.2:p.Phe339Ile