Canonical Allele Identifier: CA412379292

Gene: RS1

Linked Data

• MyVariant Identifiers: chrX:g.18690184G>T (hg19) ; chrX:g.18672064G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18672064G>T , CM000685.2:g.18672064G>T	GRCh38
NC_000023.10:g.18690184G>T , CM000685.1:g.18690184G>T	GRCh37
NC_000023.9:g.18600105G>T	NCBI36
NG_008659.3:g.10385C>A , LRG_702:g.10385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.5C>A MANE Select	ENSP00000369320.3:p.Ser2Ter
ENST00000379984.3:c.5C>A	ENSP00000369320.3:p.Ser2Ter
NM_000330.3:c.5C>A , LRG_702t1:c.5C>A	NP_000321.1:p.Ser2Ter
NM_000330.4:c.5C>A MANE Select	NP_000321.1:p.Ser2Ter