Canonical Allele Identifier: CA364642190

Gene: LCA5

Linked Data

• MyVariant Identifiers: chr6:g.80198793T>A (hg19) ; chr6:g.79489076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79489076T>A , CM000668.2:g.79489076T>A	GRCh38
NC_000006.11:g.80198793T>A , CM000668.1:g.80198793T>A	GRCh37
NC_000006.10:g.80255512T>A	NCBI36
NG_016011.1:g.53355A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369846.9:c.1231+8A>T MANE Select	ENSP00000358861.4:n.1231+8A>T
ENST00000369846.8:c.1231+8A>T	ENSP00000358861.4:n.1231+8A>T
ENST00000392959.5:c.1231+8A>T	ENSP00000376686.1:n.1231+8A>T
ENST00000467898.3:c.1239A>T	ENSP00000474463.1:p.Lys413Asn
NM_001122769.2:c.1231+8A>T	NP_001116241.1:n.1231+8A>T
NM_181714.3:c.1231+8A>T	NP_859065.2:n.1231+8A>T
XM_005248665.3:c.1231+8A>T	XP_005248722.1:n.1231+8A>T
XM_011535504.1:c.1231+8A>T	XP_011533806.1:n.1231+8A>T
XR_942715.1:n.1187T>A
XR_942716.1:n.1149T>A
XR_942717.1:n.1421T>A
XM_005248665.4:c.1231+8A>T	XP_005248722.1:n.1231+8A>T
XR_001744213.1:n.2812T>A
XR_001744214.1:n.2774T>A
NM_001122769.3:c.1231+8A>T MANE Select	NP_001116241.1:n.1231+8A>T
NM_181714.4:c.1231+8A>T	NP_859065.2:n.1231+8A>T