Canonical Allele Identifier: CA365410265

Gene: RSPH4A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116630511A>G , CM000668.2:g.116630511A>G	GRCh38
NC_000006.11:g.116951674A>G , CM000668.1:g.116951674A>G	GRCh37
NC_000006.10:g.117058367A>G	NCBI36
NG_012934.1:g.19033A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001010892.3:c.1875A>G MANE Select	NP_001010892.1:p.Gln625=
ENST00000229554.10:c.1875A>G MANE Select	ENSP00000229554.5:p.Gln625=
NM_001010892.2:c.1875A>G	NP_001010892.1:p.Gln625=
NM_001161664.1:c.1739A>G	NP_001155136.1:p.Asn580Ser
NM_001161664.2:c.1739A>G	NP_001155136.1:p.Asn580Ser
ENST00000229554.9:c.1875A>G	ENSP00000229554.5:p.Gln625=
ENST00000368580.4:c.1134A>G	ENSP00000357569.4:p.Gln378=
ENST00000368581.8:c.1739A>G	ENSP00000357570.4:p.Asn580Ser
XM_006715469.2:c.1835A>G	XP_006715532.1:p.Asn612Ser
XM_011535791.1:c.1875A>G	XP_011534093.1:p.Gln625=
XM_011535792.1:c.1875A>G	XP_011534094.1:p.Gln625=
XM_017010826.1:c.1739A>G	XP_016866315.1:p.Asn580Ser
XR_942416.1:n.4526A>G