Canonical Allele Identifier: CA364642202

Gene: LCA5

Linked Data

• MyVariant Identifiers: chr6:g.80198795T>G (hg19) ; chr6:g.79489078T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489078T>G , CM000668.2:g.79489078T>G	GRCh38
NC_000006.11:g.80198795T>G , CM000668.1:g.80198795T>G	GRCh37
NC_000006.10:g.80255514T>G	NCBI36
NG_016011.1:g.53353A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369846.9:c.1231+6A>C MANE Select	ENSP00000358861.4:n.1231+6A>C
ENST00000369846.8:c.1231+6A>C	ENSP00000358861.4:n.1231+6A>C
ENST00000392959.5:c.1231+6A>C	ENSP00000376686.1:n.1231+6A>C
ENST00000467898.3:c.1237A>C	ENSP00000474463.1:p.Lys413Gln
NM_001122769.2:c.1231+6A>C	NP_001116241.1:n.1231+6A>C
NM_181714.3:c.1231+6A>C	NP_859065.2:n.1231+6A>C
XM_005248665.3:c.1231+6A>C	XP_005248722.1:n.1231+6A>C
XM_011535504.1:c.1231+6A>C	XP_011533806.1:n.1231+6A>C
XM_005248665.4:c.1231+6A>C	XP_005248722.1:n.1231+6A>C
XR_001744213.1:n.2814T>G
XR_001744214.1:n.2776T>G
NM_001122769.3:c.1231+6A>C MANE Select	NP_001116241.1:n.1231+6A>C
NM_181714.4:c.1231+6A>C	NP_859065.2:n.1231+6A>C