Canonical Allele Identifier: CA2339606543
Gene: CRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47834555C= , CM000681.2:g.47834555C= GRCh38
NC_000019.9:g.48337812C= , CM000681.1:g.48337812C= GRCh37
NC_000019.8:g.53029624C= NCBI36
NG_008605.1:g.17714C=

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.100+12C= MANE Select ENSP00000221996.5:n.100+12C=
ENST00000221996.11:c.100+12C= ENSP00000221996.5:n.100+12C=
ENST00000539067.5:c.100+12C= ENSP00000445565.1:n.100+12C=
ENST00000556527.1:n.78-1688C=
ENST00000566686.5:c.100+12C= ENSP00000457808.2:n.100+12C=
ENST00000613299.1:c.100+12C= ENSP00000478106.1:n.100+12C=
NM_000554.4:c.100+12C= NP_000545.1:n.100+12C=
NM_000554.5:c.100+12C= NP_000545.1:n.100+12C=
NM_000554.6:c.100+12C= MANE Select NP_000545.1:n.100+12C=