Canonical Allele Identifier: CA10360829
Gene: RS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3021833
ClinVar RCV Id: RCV003880416
dbSNP Id: rs763279160
ExAC: X:18690119 T / C
gnomAD v2: X-18690119-T-C
gnomAD v4: X-18671999-T-C
MyVariant Identifiers: chrX:g.18690119T>C (hg19) chrX:g.18671999T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18671999T>C , CM000685.2:g.18671999T>C GRCh38
NC_000023.10:g.18690119T>C , CM000685.1:g.18690119T>C GRCh37
NC_000023.9:g.18600040T>C NCBI36
NG_008659.3:g.10450A>G , LRG_702:g.10450A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.52+18A>G MANE Select ENSP00000369320.3:n.52+18A>G
ENST00000379984.3:c.52+18A>G ENSP00000369320.3:n.52+18A>G
NM_000330.3:c.52+18A>G , LRG_702t1:c.52+18A>G NP_000321.1:n.52+18A>G
NM_000330.4:c.52+18A>G MANE Select NP_000321.1:n.52+18A>G
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