Canonical Allele Identifier: CA364645253

Gene: LCA5

Linked Data

• MyVariant Identifiers: chr6:g.80203358T>G (hg19) ; chr6:g.79493641T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79493641T>G , CM000668.2:g.79493641T>G	GRCh38
NC_000006.11:g.80203358T>G , CM000668.1:g.80203358T>G	GRCh37
NC_000006.10:g.80260077T>G	NCBI36
NG_016011.1:g.48790A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369846.9:c.830A>C MANE Select	ENSP00000358861.4:p.Glu277Ala
ENST00000369846.8:c.830A>C	ENSP00000358861.4:p.Glu277Ala
ENST00000392959.5:c.830A>C	ENSP00000376686.1:p.Glu277Ala
ENST00000467898.3:c.830A>C	ENSP00000474463.1:p.Glu277Ala
NM_001122769.2:c.830A>C	NP_001116241.1:p.Glu277Ala
NM_181714.3:c.830A>C	NP_859065.2:p.Glu277Ala
XM_005248665.3:c.830A>C	XP_005248722.1:p.Glu277Ala
XM_011535504.1:c.830A>C	XP_011533806.1:p.Glu277Ala
XM_005248665.4:c.830A>C	XP_005248722.1:p.Glu277Ala
NM_001122769.3:c.830A>C MANE Select	NP_001116241.1:p.Glu277Ala
NM_181714.4:c.830A>C	NP_859065.2:p.Glu277Ala