Canonical Allele Identifier: CA365409831

Gene: RSPH4A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116630457G>A , CM000668.2:g.116630457G>A	GRCh38
NC_000006.11:g.116951620G>A , CM000668.1:g.116951620G>A	GRCh37
NC_000006.10:g.117058313G>A	NCBI36
NG_012934.1:g.18979G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001010892.3:c.1821G>A MANE Select	NP_001010892.1:p.Trp607Ter
ENST00000229554.10:c.1821G>A MANE Select	ENSP00000229554.5:p.Trp607Ter
NM_001010892.2:c.1821G>A	NP_001010892.1:p.Trp607Ter
NM_001161664.1:c.1685G>A	NP_001155136.1:p.Gly562Glu
NM_001161664.2:c.1685G>A	NP_001155136.1:p.Gly562Glu
ENST00000229554.9:c.1821G>A	ENSP00000229554.5:p.Trp607Ter
ENST00000368580.4:c.1080G>A	ENSP00000357569.4:p.Trp360Ter
ENST00000368581.8:c.1685G>A	ENSP00000357570.4:p.Gly562Glu
XM_006715469.2:c.1781G>A	XP_006715532.1:p.Gly594Glu
XM_011535791.1:c.1821G>A	XP_011534093.1:p.Trp607Ter
XM_011535792.1:c.1821G>A	XP_011534094.1:p.Trp607Ter
XM_017010826.1:c.1685G>A	XP_016866315.1:p.Gly562Glu
XR_942416.1:n.4472G>A