Canonical Allele Identifier: CA406404972

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1442880239
• gnomAD v2: 19-46307701-T-C
• gnomAD v4: 19-45804443-T-C
• MyVariant Identifiers: chr19:g.46307701T>C (hg19) ; chr19:g.45804443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45804443T>C , CM000681.2:g.45804443T>C	GRCh38
NC_000019.9:g.46307701T>C , CM000681.1:g.46307701T>C	GRCh37
NC_000019.8:g.50999541T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1462A>G MANE Select	ENSP00000221538.2:p.Ile488Val
ENST00000221538.7:c.1462A>G	ENSP00000221538.2:p.Ile488Val
ENST00000597055.1:c.1462A>G	ENSP00000472630.1:p.Ile488Val
ENST00000600188.5:c.670A>G	ENSP00000471559.1:p.Ile224Val
NM_030785.3:c.1462A>G	NP_110412.1:p.Ile488Val
XM_011527351.1:c.1462A>G	XP_011525653.1:p.Ile488Val
XM_011527351.2:c.1462A>G	XP_011525653.1:p.Ile488Val
NM_030785.4:c.1462A>G MANE Select	NP_110412.1:p.Ile488Val