Canonical Allele Identifier: CA365397323

Gene: RSPH4A

Linked Data

• ClinVar Variation Id: 525252
• ClinVar RCV Id: RCV000629302
• dbSNP Id: rs1554248617
• MyVariant Identifiers: chr6:g.116943934T>G (hg19) ; chr6:g.116622771T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116622771T>G , CM000668.2:g.116622771T>G	GRCh38
NC_000006.11:g.116943934T>G , CM000668.1:g.116943934T>G	GRCh37
NC_000006.10:g.117050627T>G	NCBI36
NG_012934.1:g.11293T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.690T>G MANE Select	ENSP00000229554.5:p.Tyr230Ter
ENST00000229554.9:c.690T>G	ENSP00000229554.5:p.Tyr230Ter
ENST00000368580.4:c.690T>G	ENSP00000357569.4:p.Tyr230Ter
ENST00000368581.8:c.690T>G	ENSP00000357570.4:p.Tyr230Ter
NM_001010892.2:c.690T>G	NP_001010892.1:p.Tyr230Ter
NM_001161664.1:c.690T>G	NP_001155136.1:p.Tyr230Ter
XM_006715469.2:c.690T>G	XP_006715532.1:p.Tyr230Ter
XM_011535791.1:c.690T>G	XP_011534093.1:p.Tyr230Ter
XM_011535792.1:c.690T>G	XP_011534094.1:p.Tyr230Ter
XR_942416.1:n.3341T>G
XM_017010826.1:c.690T>G	XP_016866315.1:p.Tyr230Ter
NM_001010892.3:c.690T>G MANE Select	NP_001010892.1:p.Tyr230Ter
NM_001161664.2:c.690T>G	NP_001155136.1:p.Tyr230Ter