Canonical Allele Identifier: CA308996882
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs544832747
gnomAD v3: 19-45803907-C-T
gnomAD v4: 19-45803907-C-T
MyVariant Identifiers: chr19:g.46307165C>T (hg19) chr19:g.45803907C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45803907C>T , CM000681.2:g.45803907C>T GRCh38
NC_000019.9:g.46307165C>T , CM000681.1:g.46307165C>T GRCh37
NC_000019.8:g.50999005C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1653+345G>A MANE Select ENSP00000221538.2:n.1653+345G>A
ENST00000221538.7:c.1653+345G>A ENSP00000221538.2:n.1653+345G>A
ENST00000597055.1:c.1653+345G>A ENSP00000472630.1:n.1653+345G>A
ENST00000600188.5:c.861+345G>A ENSP00000471559.1:n.861+345G>A
NM_030785.3:c.1653+345G>A NP_110412.1:n.1653+345G>A
XM_011527351.1:c.1653+345G>A XP_011525653.1:n.1653+345G>A
XM_011527351.2:c.1653+345G>A XP_011525653.1:n.1653+345G>A
NM_030785.4:c.1653+345G>A MANE Select NP_110412.1:n.1653+345G>A
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