Canonical Allele Identifier: CA2579563872
Gene: RS1 HGNC NCBI

Linked Data

gnomAD v4: X-18672009-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18672009G>T , CM000685.2:g.18672009G>T GRCh38
NC_000023.10:g.18690129G>T , CM000685.1:g.18690129G>T GRCh37
NC_000023.9:g.18600050G>T NCBI36
NG_008659.3:g.10440C>A , LRG_702:g.10440C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379984.4:c.52+8C>A MANE Select ENSP00000369320.3:n.52+8C>A
ENST00000379984.3:c.52+8C>A ENSP00000369320.3:n.52+8C>A
NM_000330.3:c.52+8C>A , LRG_702t1:c.52+8C>A NP_000321.1:n.52+8C>A
NM_000330.4:c.52+8C>A MANE Select NP_000321.1:n.52+8C>A
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