Canonical Allele Identifier: CA365395782
Gene: RSPH4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116617295T>A , CM000668.2:g.116617295T>A GRCh38
NC_000006.11:g.116938458T>A , CM000668.1:g.116938458T>A GRCh37
NC_000006.10:g.117045151T>A NCBI36
NG_012934.1:g.5817T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.672T>A MANE Select ENSP00000229554.5:p.Asn224Lys
ENST00000229554.9:c.672T>A ENSP00000229554.5:p.Asn224Lys
ENST00000368580.4:c.672T>A ENSP00000357569.4:p.Asn224Lys
ENST00000368581.8:c.672T>A ENSP00000357570.4:p.Asn224Lys
NM_001010892.2:c.672T>A NP_001010892.1:p.Asn224Lys
NM_001161664.1:c.672T>A NP_001155136.1:p.Asn224Lys
XM_006715469.2:c.672T>A XP_006715532.1:p.Asn224Lys
XM_011535791.1:c.672T>A XP_011534093.1:p.Asn224Lys
XM_011535792.1:c.672T>A XP_011534094.1:p.Asn224Lys
XR_942416.1:n.3323T>A
XM_017010826.1:c.672T>A XP_016866315.1:p.Asn224Lys
NM_001010892.3:c.672T>A MANE Select NP_001010892.1:p.Asn224Lys
NM_001161664.2:c.672T>A NP_001155136.1:p.Asn224Lys