Canonical Allele Identifier: CA9544590
Community Standard Title: NM_000554.6(CRX):c.*6G>A
Gene: CRX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47839973G>A , CM000681.2:g.47839973G>A GRCh38
NC_000019.9:g.48343230G>A , CM000681.1:g.48343230G>A GRCh37
NC_000019.8:g.53035042G>A NCBI36
NG_008605.1:g.23132G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000554.6:c.*6G>A MANE Select NP_000545.1:n.*6G>A
ENST00000221996.12:c.*6G>A MANE Select ENSP00000221996.5:n.*6G>A
NM_000554.4:c.*6G>A NP_000545.1:n.*6G>A
NM_000554.5:c.*6G>A NP_000545.1:n.*6G>A
ENST00000221996.11:c.*6G>A ENSP00000221996.5:n.*6G>A
ENST00000539067.5:c.*6G>A ENSP00000445565.1:n.*6G>A
ENST00000613299.1:c.*628G>A ENSP00000478106.1:n.*628G>A
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