Canonical Allele Identifier: CA451904496

Gene: RSPH4A

Linked Data

• dbSNP Id: rs1295125738
• gnomAD v3: 6-116632375-A-G
• gnomAD v4: 6-116632375-A-G
• MyVariant Identifiers: chr6:g.116953538A>G (hg19) ; chr6:g.116632375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116632375A>G , CM000668.2:g.116632375A>G	GRCh38
NC_000006.11:g.116953538A>G , CM000668.1:g.116953538A>G	GRCh37
NC_000006.10:g.117060231A>G	NCBI36
NG_012934.1:g.20897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.2085A>G MANE Select	ENSP00000229554.5:p.Ala695=
ENST00000229554.9:c.2085A>G	ENSP00000229554.5:p.Ala695=
ENST00000368580.4:c.1344A>G	ENSP00000357569.4:p.Ala448=
ENST00000368581.8:c.*146A>G	ENSP00000357570.4:n.*146A>G
NM_001010892.2:c.2085A>G	NP_001010892.1:p.Ala695=
NM_001161664.1:c.*146A>G	NP_001155136.1:n.*146A>G
XM_006715469.2:c.*146A>G	XP_006715532.1:n.*146A>G
XM_011535791.1:c.2085A>G	XP_011534093.1:p.Ala695=
XM_011535792.1:c.2085A>G	XP_011534094.1:p.Ala695=
XM_017010826.1:c.*146A>G	XP_016866315.1:n.*146A>G
NM_001010892.3:c.2085A>G MANE Select	NP_001010892.1:p.Ala695=
NM_001161664.2:c.*146A>G	NP_001155136.1:n.*146A>G