Canonical Allele Identifier: CA412378955

Gene: RS1

Linked Data

• MyVariant Identifiers: chrX:g.18690140C>G (hg19) ; chrX:g.18672020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18672020C>G , CM000685.2:g.18672020C>G	GRCh38
NC_000023.10:g.18690140C>G , CM000685.1:g.18690140C>G	GRCh37
NC_000023.9:g.18600061C>G	NCBI36
NG_008659.3:g.10429G>C , LRG_702:g.10429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.49G>C MANE Select	ENSP00000369320.3:p.Glu17Gln
ENST00000379984.3:c.49G>C	ENSP00000369320.3:p.Glu17Gln
NM_000330.3:c.49G>C , LRG_702t1:c.49G>C	NP_000321.1:p.Glu17Gln
NM_000330.4:c.49G>C MANE Select	NP_000321.1:p.Glu17Gln