Canonical Allele Identifier: CA2338614742
Gene: RSPH6A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45803904A= , CM000681.2:g.45803904A= GRCh38
NC_000019.9:g.46307162A= , CM000681.1:g.46307162A= GRCh37
NC_000019.8:g.50999002A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1653+348T= MANE Select ENSP00000221538.2:n.1653+348T=
ENST00000221538.7:c.1653+348T= ENSP00000221538.2:n.1653+348T=
ENST00000597055.1:c.1653+348T= ENSP00000472630.1:n.1653+348T=
ENST00000600188.5:c.861+348T= ENSP00000471559.1:n.861+348T=
NM_030785.3:c.1653+348T= NP_110412.1:n.1653+348T=
XM_011527351.1:c.1653+348T= XP_011525653.1:n.1653+348T=
XM_011527351.2:c.1653+348T= XP_011525653.1:n.1653+348T=
NM_030785.4:c.1653+348T= MANE Select NP_110412.1:n.1653+348T=
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