Canonical Allele Identifier: CA412379243
Gene: RS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672058T>A , CM000685.2:g.18672058T>A GRCh38
NC_000023.10:g.18690178T>A , CM000685.1:g.18690178T>A GRCh37
NC_000023.9:g.18600099T>A NCBI36
NG_008659.3:g.10391A>T , LRG_702:g.10391A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.11A>T MANE Select ENSP00000369320.3:p.Lys4Met
ENST00000379984.3:c.11A>T ENSP00000369320.3:p.Lys4Met
NM_000330.3:c.11A>T , LRG_702t1:c.11A>T NP_000321.1:p.Lys4Met
NM_000330.4:c.11A>T MANE Select NP_000321.1:p.Lys4Met