Canonical Allele Identifier: CA227624

Gene: CRX

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47839492A>G , CM000681.2:g.47839492A>G	GRCh38
NC_000019.9:g.48342749A>G , CM000681.1:g.48342749A>G	GRCh37
NC_000019.8:g.53034561A>G	NCBI36
NG_008605.1:g.22651A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000554.6:c.425A>G MANE Select	NP_000545.1:p.Tyr142Cys
ENST00000221996.12:c.425A>G MANE Select	ENSP00000221996.5:p.Tyr142Cys
NM_000554.4:c.425A>G	NP_000545.1:p.Tyr142Cys
NM_000554.5:c.425A>G	NP_000545.1:p.Tyr142Cys
ENST00000221996.11:c.425A>G	ENSP00000221996.5:p.Tyr142Cys
ENST00000539067.5:c.425A>G	ENSP00000445565.1:p.Tyr142Cys
ENST00000613299.1:c.*147A>G	ENSP00000478106.1:n.*147A>G