Canonical Allele Identifier: CA406405010
Gene: RSPH6A HGNC NCBI

Linked Data

dbSNP Id: rs151169289
MyVariant Identifiers: chr19:g.46307723G>T (hg19) chr19:g.45804465G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45804465G>T , CM000681.2:g.45804465G>T GRCh38
NC_000019.9:g.46307723G>T , CM000681.1:g.46307723G>T GRCh37
NC_000019.8:g.50999563G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221538.8:c.1440C>A MANE Select ENSP00000221538.2:p.Tyr480Ter
ENST00000221538.7:c.1440C>A ENSP00000221538.2:p.Tyr480Ter
ENST00000597055.1:c.1440C>A ENSP00000472630.1:p.Tyr480Ter
ENST00000600188.5:c.648C>A ENSP00000471559.1:p.Tyr216Ter
NM_030785.3:c.1440C>A NP_110412.1:p.Tyr480Ter
XM_011527351.1:c.1440C>A XP_011525653.1:p.Tyr480Ter
XM_011527351.2:c.1440C>A XP_011525653.1:p.Tyr480Ter
NM_030785.4:c.1440C>A MANE Select NP_110412.1:p.Tyr480Ter
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