Canonical Allele Identifier: CA10360835
Gene: RS1 HGNC NCBI

Linked Data

dbSNP Id: rs756086692
ExAC: X:18690179 T / C
gnomAD v2: X-18690179-T-C
gnomAD v3: X-18672059-T-C
gnomAD v4: X-18672059-T-C
MyVariant Identifiers: chrX:g.18690179T>C (hg19) chrX:g.18672059T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672059T>C , CM000685.2:g.18672059T>C GRCh38
NC_000023.10:g.18690179T>C , CM000685.1:g.18690179T>C GRCh37
NC_000023.9:g.18600100T>C NCBI36
NG_008659.3:g.10390A>G , LRG_702:g.10390A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.10A>G MANE Select ENSP00000369320.3:p.Lys4Glu
ENST00000379984.3:c.10A>G ENSP00000369320.3:p.Lys4Glu
NM_000330.3:c.10A>G , LRG_702t1:c.10A>G NP_000321.1:p.Lys4Glu
NM_000330.4:c.10A>G MANE Select NP_000321.1:p.Lys4Glu
Search 100 bp 5'
Search 100 bp 3'