Canonical Allele Identifier: CA9522645
Gene: RSPH6A HGNC NCBI

Linked Data

ClinVar Variation Id: 3156728
ClinVar RCV Id: RCV004454590
dbSNP Id: rs61749001
ExAC: 19:46307619 G / C
gnomAD v2: 19-46307619-G-C
gnomAD v3: 19-45804361-G-C
gnomAD v4: 19-45804361-G-C
MyVariant Identifiers: chr19:g.46307619G>C (hg19) chr19:g.45804361G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804361G>C , CM000681.2:g.45804361G>C GRCh38
NC_000019.9:g.46307619G>C , CM000681.1:g.46307619G>C GRCh37
NC_000019.8:g.50999459G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1544C>G MANE Select ENSP00000221538.2:p.Ala515Gly
ENST00000221538.7:c.1544C>G ENSP00000221538.2:p.Ala515Gly
ENST00000597055.1:c.1544C>G ENSP00000472630.1:p.Ala515Gly
ENST00000600188.5:c.752C>G ENSP00000471559.1:p.Ala251Gly
NM_030785.3:c.1544C>G NP_110412.1:p.Ala515Gly
XM_011527351.1:c.1544C>G XP_011525653.1:p.Ala515Gly
XM_011527351.2:c.1544C>G XP_011525653.1:p.Ala515Gly
NM_030785.4:c.1544C>G MANE Select NP_110412.1:p.Ala515Gly
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