Canonical Allele Identifier: CA412379168
Gene: RS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672049C>G , CM000685.2:g.18672049C>G GRCh38
NC_000023.10:g.18690169C>G , CM000685.1:g.18690169C>G GRCh37
NC_000023.9:g.18600090C>G NCBI36
NG_008659.3:g.10400G>C , LRG_702:g.10400G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.20G>C MANE Select ENSP00000369320.3:p.Gly7Ala
ENST00000379984.3:c.20G>C ENSP00000369320.3:p.Gly7Ala
NM_000330.3:c.20G>C , LRG_702t1:c.20G>C NP_000321.1:p.Gly7Ala
NM_000330.4:c.20G>C MANE Select NP_000321.1:p.Gly7Ala