Canonical Allele Identifier: CA507965385
Gene: RSPH6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46307621A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804363A>C , CM000681.2:g.45804363A>C GRCh38
NC_000019.9:g.46307621A>C , CM000681.1:g.46307621A>C GRCh37
NC_000019.8:g.50999461A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1542T>G MANE Select ENSP00000221538.2:p.Gly514=
ENST00000221538.7:c.1542T>G ENSP00000221538.2:p.Gly514=
ENST00000597055.1:c.1542T>G ENSP00000472630.1:p.Gly514=
ENST00000600188.5:c.750T>G ENSP00000471559.1:p.Gly250=
NM_030785.3:c.1542T>G NP_110412.1:p.Gly514=
XM_011527351.1:c.1542T>G XP_011525653.1:p.Gly514=
XM_011527351.2:c.1542T>G XP_011525653.1:p.Gly514=
NM_030785.4:c.1542T>G MANE Select NP_110412.1:p.Gly514=
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