Canonical Allele Identifier: CA3970869

Gene: RSPH4A

Linked Data

• dbSNP Id: rs752874566
• ExAC: 6:116948819 G / A
• gnomAD v2: 6-116948819-G-A
• gnomAD v4: 6-116627656-G-A
• MyVariant Identifiers: chr6:g.116948819G>A (hg19) ; chr6:g.116627656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116627656G>A , CM000668.2:g.116627656G>A	GRCh38
NC_000006.11:g.116948819G>A , CM000668.1:g.116948819G>A	GRCh37
NC_000006.10:g.117055512G>A	NCBI36
NG_012934.1:g.16178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.949G>A MANE Select	ENSP00000229554.5:p.Glu317Lys
ENST00000229554.9:c.949G>A	ENSP00000229554.5:p.Glu317Lys
ENST00000368580.4:c.922-1911G>A	ENSP00000357569.4:n.922-1911G>A
ENST00000368581.8:c.949G>A	ENSP00000357570.4:p.Glu317Lys
NM_001010892.2:c.949G>A	NP_001010892.1:p.Glu317Lys
NM_001161664.1:c.949G>A	NP_001155136.1:p.Glu317Lys
XM_006715469.2:c.949G>A	XP_006715532.1:p.Glu317Lys
XM_011535791.1:c.949G>A	XP_011534093.1:p.Glu317Lys
XM_011535792.1:c.949G>A	XP_011534094.1:p.Glu317Lys
XR_942416.1:n.3600G>A
XM_017010826.1:c.949G>A	XP_016866315.1:p.Glu317Lys
NM_001010892.3:c.949G>A MANE Select	NP_001010892.1:p.Glu317Lys
NM_001161664.2:c.949G>A	NP_001155136.1:p.Glu317Lys