Canonical Allele Identifier: CA227611
Community Standard Title: NM_000554.6(CRX):c.101-65A>T
Gene: CRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47836178A>T , CM000681.2:g.47836178A>T GRCh38
NC_000019.9:g.48339435A>T , CM000681.1:g.48339435A>T GRCh37
NC_000019.8:g.53031247A>T NCBI36
NG_008605.1:g.19337A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000554.6:c.101-65A>T MANE Select NP_000545.1:n.101-65A>T
ENST00000221996.12:c.101-65A>T MANE Select ENSP00000221996.5:n.101-65A>T
NM_000554.4:c.101-65A>T NP_000545.1:n.101-65A>T
NM_000554.5:c.101-65A>T NP_000545.1:n.101-65A>T
ENST00000221996.11:c.101-65A>T ENSP00000221996.5:n.101-65A>T
ENST00000539067.5:c.101-65A>T ENSP00000445565.1:n.101-65A>T
ENST00000556527.1:n.78-65A>T
ENST00000566686.5:c.101-65A>T ENSP00000457808.2:n.101-65A>T
ENST00000613299.1:c.100+1635A>T ENSP00000478106.1:n.100+1635A>T