Canonical Allele Identifier: CA2579563864
Gene: RS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18671945C>A , CM000685.2:g.18671945C>A GRCh38
NC_000023.10:g.18690065C>A , CM000685.1:g.18690065C>A GRCh37
NC_000023.9:g.18599986C>A NCBI36
NG_008659.3:g.10504G>T , LRG_702:g.10504G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379984.4:c.52+72G>T MANE Select ENSP00000369320.3:n.52+72G>T
ENST00000379984.3:c.52+72G>T ENSP00000369320.3:n.52+72G>T
NM_000330.3:c.52+72G>T , LRG_702t1:c.52+72G>T NP_000321.1:n.52+72G>T
NM_000330.4:c.52+72G>T MANE Select NP_000321.1:n.52+72G>T
Search 100 bp 5'
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