Canonical Allele Identifier: CA327014932
Gene: RS1 HGNC NCBI

Linked Data

dbSNP Id: rs1028699372
gnomAD v4: X-18671977-T-C
MyVariant Identifiers: chrX:g.18690097T>C (hg19) chrX:g.18671977T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18671977T>C , CM000685.2:g.18671977T>C GRCh38
NC_000023.10:g.18690097T>C , CM000685.1:g.18690097T>C GRCh37
NC_000023.9:g.18600018T>C NCBI36
NG_008659.3:g.10472A>G , LRG_702:g.10472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.52+40A>G MANE Select ENSP00000369320.3:n.52+40A>G
ENST00000379984.3:c.52+40A>G ENSP00000369320.3:n.52+40A>G
NM_000330.3:c.52+40A>G , LRG_702t1:c.52+40A>G NP_000321.1:n.52+40A>G
NM_000330.4:c.52+40A>G MANE Select NP_000321.1:n.52+40A>G
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