Canonical Allele Identifier: CA406404958

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1970512923
• gnomAD v4: 19-45804437-C-A
• COSMIC: COSM5973027
• MyVariant Identifiers: chr19:g.46307695C>A (hg19) ; chr19:g.45804437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804437C>A , CM000681.2:g.45804437C>A	GRCh38
NC_000019.9:g.46307695C>A , CM000681.1:g.46307695C>A	GRCh37
NC_000019.8:g.50999535C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1468G>T MANE Select	ENSP00000221538.2:p.Ala490Ser
ENST00000221538.7:c.1468G>T	ENSP00000221538.2:p.Ala490Ser
ENST00000597055.1:c.1468G>T	ENSP00000472630.1:p.Ala490Ser
ENST00000600188.5:c.676G>T	ENSP00000471559.1:p.Ala226Ser
NM_030785.3:c.1468G>T	NP_110412.1:p.Ala490Ser
XM_011527351.1:c.1468G>T	XP_011525653.1:p.Ala490Ser
XM_011527351.2:c.1468G>T	XP_011525653.1:p.Ala490Ser
NM_030785.4:c.1468G>T MANE Select	NP_110412.1:p.Ala490Ser