Canonical Allele Identifier: CA412379260
Gene: RS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.18690181C>G (hg19) chrX:g.18672061C>G (hg38)
PubMed: PMID:26785492
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672061C>G , CM000685.2:g.18672061C>G GRCh38
NC_000023.10:g.18690181C>G , CM000685.1:g.18690181C>G GRCh37
NC_000023.9:g.18600102C>G NCBI36
NG_008659.3:g.10388G>C , LRG_702:g.10388G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.8G>C MANE Select ENSP00000369320.3:p.Arg3Pro
ENST00000379984.3:c.8G>C ENSP00000369320.3:p.Arg3Pro
NM_000330.3:c.8G>C , LRG_702t1:c.8G>C NP_000321.1:p.Arg3Pro
NM_000330.4:c.8G>C MANE Select NP_000321.1:p.Arg3Pro
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