Canonical Allele Identifier: CA513693595
Gene: RTN4R HGNC NCBI

Linked Data

dbSNP Id: rs554221416
gnomAD v2: 22-20229963-G-C
gnomAD v4: 22-20242440-G-C
MyVariant Identifiers: chr22:g.20229963G>C (hg19) chr22:g.20242440G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20242440G>C , CM000684.2:g.20242440G>C GRCh38
NC_000022.10:g.20229963G>C , CM000684.1:g.20229963G>C GRCh37
NC_000022.9:g.18609963G>C NCBI36
NG_012176.1:g.30854C>G
NG_012176.2:g.30854C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000043402.8:c.693C>G MANE Select ENSP00000043402.7:p.Leu231=
ENST00000043402.7:c.693C>G ENSP00000043402.7:p.Leu231=
ENST00000416372.5:c.752C>G
ENST00000425986.1:c.950C>G
NM_023004.5:c.693C>G NP_075380.1:p.Leu231=
NM_023004.6:c.693C>G MANE Select NP_075380.1:p.Leu231=
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