Canonical Allele Identifier: CA364631515

Gene: LCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79518753T>A , CM000668.2:g.79518753T>A	GRCh38
NC_000006.11:g.80228470T>A , CM000668.1:g.80228470T>A	GRCh37
NC_000006.10:g.80285189T>A	NCBI36
NG_016011.1:g.23678A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001122769.3:c.142A>T MANE Select	NP_001116241.1:p.Arg48Ter
ENST00000369846.9:c.142A>T MANE Select	ENSP00000358861.4:p.Arg48Ter
NM_001122769.2:c.142A>T	NP_001116241.1:p.Arg48Ter
NM_181714.3:c.142A>T	NP_859065.2:p.Arg48Ter
NM_181714.4:c.142A>T	NP_859065.2:p.Arg48Ter
ENST00000369846.8:c.142A>T	ENSP00000358861.4:p.Arg48Ter
ENST00000392959.5:c.142A>T	ENSP00000376686.1:p.Arg48Ter
ENST00000467898.3:c.142A>T	ENSP00000474463.1:p.Arg48Ter
XM_005248665.3:c.142A>T	XP_005248722.1:p.Arg48Ter
XM_005248665.4:c.142A>T	XP_005248722.1:p.Arg48Ter
XM_011535504.1:c.142A>T	XP_011533806.1:p.Arg48Ter