Canonical Allele Identifier: CA873675510

Gene: RS1

Linked Data

• dbSNP Id: rs1198331102
• MyVariant Identifiers: chrX:g.18690089A>T (hg19) ; chrX:g.18671969A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18671969A>T , CM000685.2:g.18671969A>T	GRCh38
NC_000023.10:g.18690089A>T , CM000685.1:g.18690089A>T	GRCh37
NC_000023.9:g.18600010A>T	NCBI36
NG_008659.3:g.10480T>A , LRG_702:g.10480T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.52+48T>A MANE Select	ENSP00000369320.3:n.52+48T>A
ENST00000379984.3:c.52+48T>A	ENSP00000369320.3:n.52+48T>A
NM_000330.3:c.52+48T>A , LRG_702t1:c.52+48T>A	NP_000321.1:n.52+48T>A
NM_000330.4:c.52+48T>A MANE Select	NP_000321.1:n.52+48T>A