Canonical Allele Identifier: CA412379060
Gene: RS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2122675
ClinVar RCV Id: RCV003054169
MyVariant Identifiers: chrX:g.18690154A>C (hg19) chrX:g.18672034A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672034A>C , CM000685.2:g.18672034A>C GRCh38
NC_000023.10:g.18690154A>C , CM000685.1:g.18690154A>C GRCh37
NC_000023.9:g.18600075A>C NCBI36
NG_008659.3:g.10415T>G , LRG_702:g.10415T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.35T>G MANE Select ENSP00000369320.3:p.Leu12Arg
ENST00000379984.3:c.35T>G ENSP00000369320.3:p.Leu12Arg
NM_000330.3:c.35T>G , LRG_702t1:c.35T>G NP_000321.1:p.Leu12Arg
NM_000330.4:c.35T>G MANE Select NP_000321.1:p.Leu12Arg
Search 100 bp 5'
Search 100 bp 3'