Canonical Allele Identifier: CA914334604

Gene: CRX

Linked Data

• dbSNP Id: rs1568624182
• gnomAD v2: 19-48337804-A-T
• gnomAD v3: 19-47834547-A-T
• gnomAD v4: 19-47834547-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47834547A>T , CM000681.2:g.47834547A>T	GRCh38
NC_000019.9:g.48337804A>T , CM000681.1:g.48337804A>T	GRCh37
NC_000019.8:g.53029616A>T	NCBI36
NG_008605.1:g.17706A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221996.12:c.100+4A>T MANE Select	ENSP00000221996.5:n.100+4A>T
ENST00000221996.11:c.100+4A>T	ENSP00000221996.5:n.100+4A>T
ENST00000539067.5:c.100+4A>T	ENSP00000445565.1:n.100+4A>T
ENST00000556527.1:n.78-1696A>T
ENST00000566686.5:c.100+4A>T	ENSP00000457808.2:n.100+4A>T
ENST00000613299.1:c.100+4A>T	ENSP00000478106.1:n.100+4A>T
NM_000554.4:c.100+4A>T	NP_000545.1:n.100+4A>T
NM_000554.5:c.100+4A>T	NP_000545.1:n.100+4A>T
NM_000554.6:c.100+4A>T MANE Select	NP_000545.1:n.100+4A>T