Canonical Allele Identifier: CA9522616
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs372117864
ExAC: 19:46307550 A / G
gnomAD v2: 19-46307550-A-G
gnomAD v3: 19-45804292-A-G
gnomAD v4: 19-45804292-A-G
MyVariant Identifiers: chr19:g.46307550A>G (hg19) chr19:g.45804292A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804292A>G , CM000681.2:g.45804292A>G GRCh38
NC_000019.9:g.46307550A>G , CM000681.1:g.46307550A>G GRCh37
NC_000019.8:g.50999390A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1613T>C MANE Select ENSP00000221538.2:p.Met538Thr
ENST00000221538.7:c.1613T>C ENSP00000221538.2:p.Met538Thr
ENST00000597055.1:c.1613T>C ENSP00000472630.1:p.Met538Thr
ENST00000600188.5:c.821T>C ENSP00000471559.1:p.Met274Thr
NM_030785.3:c.1613T>C NP_110412.1:p.Met538Thr
XM_011527351.1:c.1613T>C XP_011525653.1:p.Met538Thr
XM_011527351.2:c.1613T>C XP_011525653.1:p.Met538Thr
NM_030785.4:c.1613T>C MANE Select NP_110412.1:p.Met538Thr
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