Canonical Allele Identifier: CA406404800
Gene: RSPH6A HGNC NCBI

Linked Data

gnomAD v4: 19-45804365-C-T
MyVariant Identifiers: chr19:g.46307623C>T (hg19) chr19:g.45804365C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804365C>T , CM000681.2:g.45804365C>T GRCh38
NC_000019.9:g.46307623C>T , CM000681.1:g.46307623C>T GRCh37
NC_000019.8:g.50999463C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1540G>A MANE Select ENSP00000221538.2:p.Gly514Ser
ENST00000221538.7:c.1540G>A ENSP00000221538.2:p.Gly514Ser
ENST00000597055.1:c.1540G>A ENSP00000472630.1:p.Gly514Ser
ENST00000600188.5:c.748G>A ENSP00000471559.1:p.Gly250Ser
NM_030785.3:c.1540G>A NP_110412.1:p.Gly514Ser
XM_011527351.1:c.1540G>A XP_011525653.1:p.Gly514Ser
XM_011527351.2:c.1540G>A XP_011525653.1:p.Gly514Ser
NM_030785.4:c.1540G>A MANE Select NP_110412.1:p.Gly514Ser
Search 100 bp 5'
Search 100 bp 3'