Canonical Allele Identifier: CA633359318

Gene: RSPH6A

Linked Data

• dbSNP Id: rs1252145839
• gnomAD v2: 19-46307152-G-A
• MyVariant Identifiers: chr19:g.46307152G>A (hg19) ; chr19:g.45803894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45803894G>A , CM000681.2:g.45803894G>A	GRCh38
NC_000019.9:g.46307152G>A , CM000681.1:g.46307152G>A	GRCh37
NC_000019.8:g.50998992G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221538.8:c.1653+358C>T MANE Select	ENSP00000221538.2:n.1653+358C>T
ENST00000221538.7:c.1653+358C>T	ENSP00000221538.2:n.1653+358C>T
ENST00000597055.1:c.1653+358C>T	ENSP00000472630.1:n.1653+358C>T
ENST00000600188.5:c.861+358C>T	ENSP00000471559.1:n.861+358C>T
NM_030785.3:c.1653+358C>T	NP_110412.1:n.1653+358C>T
XM_011527351.1:c.1653+358C>T	XP_011525653.1:n.1653+358C>T
XM_011527351.2:c.1653+358C>T	XP_011525653.1:n.1653+358C>T
NM_030785.4:c.1653+358C>T MANE Select	NP_110412.1:n.1653+358C>T