Canonical Allele Identifier: CA2417996986
Gene: RS1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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