Canonical Allele Identifier: CA2625367271
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

gnomAD v4: 14-67727106-AAGCGCTACAGCAGGGGTTTTGCCTATTGCCAC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67727110_67727141del , CM000676.2:g.67727110_67727141del GRCh38
NC_000014.8:g.68193827_68193858del , CM000676.1:g.68193827_68193858del GRCh37
NC_000014.7:g.67263580_67263611del NCBI36
NG_008321.1:g.30225_30256del

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.578_609del (RDH12) MANE Select ENSP00000449079.1:p.Arg193GlnfsTer10
ENST00000267502.3:c.578_609del (RDH12) ENSP00000267502.3:p.Arg193GlnfsTer10
ENST00000551171.5:c.578_609del (RDH12) ENSP00000449079.1:p.Arg193GlnfsTer10
NM_152443.2:c.578_609del (RDH12) NP_689656.2:p.Arg193GlnfsTer10
XM_017020925.2:c.1313-8085_1313-8054del (GPHN) XP_016876414.1:n.1313-8085_1313-8054del
NM_152443.3:c.578_609del (RDH12) MANE Select NP_689656.2:p.Arg193GlnfsTer10
Search 100 bp 5'
Search 100 bp 3'