Canonical Allele Identifier: CA406629467
Gene: CRX HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.48339532A>C (hg19) chr19:g.47836275A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47836275A>C , CM000681.2:g.47836275A>C GRCh38
NC_000019.9:g.48339532A>C , CM000681.1:g.48339532A>C GRCh37
NC_000019.8:g.53031344A>C NCBI36
NG_008605.1:g.19434A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000221996.12:c.133A>C MANE Select ENSP00000221996.5:p.Thr45Pro
ENST00000221996.11:c.133A>C ENSP00000221996.5:p.Thr45Pro
ENST00000539067.5:c.133A>C ENSP00000445565.1:p.Thr45Pro
ENST00000556527.1:n.110A>C
ENST00000566686.5:c.133A>C ENSP00000457808.2:p.Thr45Pro
ENST00000613299.1:c.100+1732A>C ENSP00000478106.1:n.100+1732A>C
NM_000554.4:c.133A>C NP_000545.1:p.Thr45Pro
NM_000554.5:c.133A>C NP_000545.1:p.Thr45Pro
NM_000554.6:c.133A>C MANE Select NP_000545.1:p.Thr45Pro
Search 100 bp 5'
Search 100 bp 3'