Canonical Allele Identifier: CA406629449

Gene: CRX

Linked Data

• MyVariant Identifiers: chr19:g.48339526C>G (hg19) ; chr19:g.47836269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47836269C>G , CM000681.2:g.47836269C>G	GRCh38
NC_000019.9:g.48339526C>G , CM000681.1:g.48339526C>G	GRCh37
NC_000019.8:g.53031338C>G	NCBI36
NG_008605.1:g.19428C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000221996.12:c.127C>G MANE Select	ENSP00000221996.5:p.Arg43Gly
ENST00000221996.11:c.127C>G	ENSP00000221996.5:p.Arg43Gly
ENST00000539067.5:c.127C>G	ENSP00000445565.1:p.Arg43Gly
ENST00000556527.1:n.104C>G
ENST00000566686.5:c.127C>G	ENSP00000457808.2:p.Arg43Gly
ENST00000613299.1:c.100+1726C>G	ENSP00000478106.1:n.100+1726C>G
NM_000554.4:c.127C>G	NP_000545.1:p.Arg43Gly
NM_000554.5:c.127C>G	NP_000545.1:p.Arg43Gly
NM_000554.6:c.127C>G MANE Select	NP_000545.1:p.Arg43Gly