Canonical Allele Identifier: CA16596460

Gene: RSPH14

Linked Data

• dbSNP Id: rs4820539
• gnomAD v2: 22-23477970-A-G
• gnomAD v3: 22-23135783-A-G
• gnomAD v4: 22-23135783-A-G
• MyVariant Identifiers: chr22:g.23477970A>G (hg19) ; chr22:g.23135783A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23135783A>G , CM000684.2:g.23135783A>G	GRCh38
NC_000022.10:g.23477970A>G , CM000684.1:g.23477970A>G	GRCh37
NC_000022.9:g.21807970A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000216036.9:c.303-1639T>C MANE Select	ENSP00000216036.4:n.303-1639T>C
ENST00000216036.8:c.303-1639T>C	ENSP00000216036.4:n.303-1639T>C
ENST00000439064.1:c.76-1639T>C
NM_014433.2:c.303-1639T>C	NP_055248.1:n.303-1639T>C
XM_011530149.1:c.303-1639T>C	XP_011528451.1:n.303-1639T>C
XM_011530150.1:c.303-1639T>C	XP_011528452.1:n.303-1639T>C
XM_011530151.1:c.303-1639T>C	XP_011528453.1:n.303-1639T>C
XM_011530152.1:c.303-1639T>C	XP_011528454.1:n.303-1639T>C
XM_011530153.1:c.303-1639T>C	XP_011528455.1:n.303-1639T>C
XM_011530154.1:c.99-1639T>C	XP_011528456.1:n.99-1639T>C
XM_011530149.2:c.303-1639T>C	XP_011528451.1:n.303-1639T>C
XM_011530151.2:c.303-1639T>C	XP_011528453.1:n.303-1639T>C
XM_011530152.2:c.303-1639T>C	XP_011528454.1:n.303-1639T>C
XM_011530154.2:c.99-1639T>C	XP_011528456.1:n.99-1639T>C
XM_017028774.1:c.303-1639T>C	XP_016884263.1:n.303-1639T>C
NM_014433.3:c.303-1639T>C MANE Select	NP_055248.1:n.303-1639T>C