Canonical Allele Identifier: CA412378992
Gene: RS1 HGNC NCBI

Linked Data

dbSNP Id: rs1928498946

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672025C>A , CM000685.2:g.18672025C>A GRCh38
NC_000023.10:g.18690145C>A , CM000685.1:g.18690145C>A GRCh37
NC_000023.9:g.18600066C>A NCBI36
NG_008659.3:g.10424G>T , LRG_702:g.10424G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.44G>T MANE Select ENSP00000369320.3:p.Gly15Val
ENST00000379984.3:c.44G>T ENSP00000369320.3:p.Gly15Val
NM_000330.3:c.44G>T , LRG_702t1:c.44G>T NP_000321.1:p.Gly15Val
NM_000330.4:c.44G>T MANE Select NP_000321.1:p.Gly15Val