Canonical Allele Identifier: CA9522646
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs766462573
ExAC: 19:46307620 C / T
gnomAD v2: 19-46307620-C-T
gnomAD v4: 19-45804362-C-T
MyVariant Identifiers: chr19:g.46307620C>T (hg19) chr19:g.45804362C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804362C>T , CM000681.2:g.45804362C>T GRCh38
NC_000019.9:g.46307620C>T , CM000681.1:g.46307620C>T GRCh37
NC_000019.8:g.50999460C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1543G>A MANE Select ENSP00000221538.2:p.Ala515Thr
ENST00000221538.7:c.1543G>A ENSP00000221538.2:p.Ala515Thr
ENST00000597055.1:c.1543G>A ENSP00000472630.1:p.Ala515Thr
ENST00000600188.5:c.751G>A ENSP00000471559.1:p.Ala251Thr
NM_030785.3:c.1543G>A NP_110412.1:p.Ala515Thr
XM_011527351.1:c.1543G>A XP_011525653.1:p.Ala515Thr
XM_011527351.2:c.1543G>A XP_011525653.1:p.Ala515Thr
NM_030785.4:c.1543G>A MANE Select NP_110412.1:p.Ala515Thr
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