Canonical Allele Identifier: CA227610

Gene: CRX

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47836230C>G , CM000681.2:g.47836230C>G	GRCh38
NC_000019.9:g.48339487C>G , CM000681.1:g.48339487C>G	GRCh37
NC_000019.8:g.53031299C>G	NCBI36
NG_008605.1:g.19389C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000554.6:c.101-13C>G MANE Select	NP_000545.1:n.101-13C>G
ENST00000221996.12:c.101-13C>G MANE Select	ENSP00000221996.5:n.101-13C>G
NM_000554.4:c.101-13C>G	NP_000545.1:n.101-13C>G
NM_000554.5:c.101-13C>G	NP_000545.1:n.101-13C>G
ENST00000221996.11:c.101-13C>G	ENSP00000221996.5:n.101-13C>G
ENST00000539067.5:c.101-13C>G	ENSP00000445565.1:n.101-13C>G
ENST00000556527.1:n.78-13C>G
ENST00000566686.5:c.101-13C>G	ENSP00000457808.2:n.101-13C>G
ENST00000613299.1:c.100+1687C>G	ENSP00000478106.1:n.100+1687C>G