Canonical Allele Identifier: CA412378903

Gene: RS1

Linked Data

• MyVariant Identifiers: chrX:g.18690135A>T (hg19) ; chrX:g.18672015A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18672015A>T , CM000685.2:g.18672015A>T	GRCh38
NC_000023.10:g.18690135A>T , CM000685.1:g.18690135A>T	GRCh37
NC_000023.9:g.18600056A>T	NCBI36
NG_008659.3:g.10434T>A , LRG_702:g.10434T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379984.4:c.52+2T>A MANE Select	ENSP00000369320.3:n.52+2T>A
ENST00000379984.3:c.52+2T>A	ENSP00000369320.3:n.52+2T>A
NM_000330.3:c.52+2T>A , LRG_702t1:c.52+2T>A	NP_000321.1:n.52+2T>A
NM_000330.4:c.52+2T>A MANE Select	NP_000321.1:n.52+2T>A